quaking mice

Summary

Summary: Mice homozygous for the mutant autosomal recessive gene, quaking (qk), associated with disorder in myelin formation and manifested by axial tremors.

Top Publications

  1. Bo L, Quarles R, Fujita N, Bartoszewicz Z, Sato S, Trapp B. Endocytic depletion of L-MAG from CNS myelin in quaking mice. J Cell Biol. 1995;131:1811-20 pubmed
    ..have determined the distribution of L-MAG and S-MAG in cervical spinal cord of 7-, 14-, 21-, 28-, and 35-d-old quaking mice. In 7-d-old quaking and control spinal cord, L- and S-MAG was detectable in periaxonal regions of myelinated ..
  2. Hardy R. Molecular defects in the dysmyelinating mutant quaking. J Neurosci Res. 1998;51:417-22 pubmed
    ..This review discusses some of the known molecular defects in qk(v) in the context of this new information and the potential role of QKI proteins in myelinogenesis...
  3. Mateu L, Luzzati V, Vonasek E, Borgo M, Lachapelle F. Order-disorder phenomena in myelinated nerve sheaths. VI. The effects of quaking, jimpy and shiverer mutations: an X-ray scattering study of mouse sciatic and optic nerves. J Mol Biol. 1996;256:319-29 pubmed
    We report the X-ray scattering study of sciatic and optic nerve myelin from shiverer, jimpy and quaking mice mutants and from the corresponding controls...
  4. Wu J, Reed R, Grabowski P, Artzt K. Function of quaking in myelination: regulation of alternative splicing. Proc Natl Acad Sci U S A. 2002;99:4233-8 pubmed
    ..Direct evidence for irregularities in alternative splicing of MAG and other myelin protein transcripts in the qk mouse is demonstrated. ..
  5. Chen T, Richard S. Structure-function analysis of Qk1: a lethal point mutation in mouse quaking prevents homodimerization. Mol Cell Biol. 1998;18:4863-71 pubmed
    ..Qk1:EG was consistently more potent at inducing apoptosis than was wild-type Qk1. These results suggest that the mouse quaking lethality (EG) occurs due to the absence of Qk1 self-association mediated by the GSG domain. ..
  6. Zearfoss N, Farley B, Ryder S. Post-transcriptional regulation of myelin formation. Biochim Biophys Acta. 2008;1779:486-94 pubmed publisher
    ..Here, we review the RNA-binding proteins that control myelin formation in the brain, highlighting the molecular mechanisms by which they control gene expression and drawing parallels from studies in other cell types. ..
  7. Levine S, Brown D. IL-6 and TNFalpha expression in brains of twitcher, quaking and normal mice. J Neuroimmunol. 1997;73:47-56 pubmed
    ..cell types expressing these cytokines, and their spatial distribution, in the brains of normal, twitcher and quaking mice. In normal mice, IL-6 was found in ependymal cells, Bergmann glia, in processes that were adjacent or attached ..
  8. Greenfield S, Williams N, White M, Brostoff S, Hogan E. Proteolipid protein: synthesis and assembly into quaking mouse myelin. J Neurochem. 1979;32:1647-51 pubmed
  9. Kljavin I, Madison R, Reh T. Optic nerve tissue sections derived from myelin-deficient mutant mice as culture substrata for fibroblast adhesion and spreading. Exp Cell Res. 1991;194:135-8 pubmed
    ..These results demonstrate that CNS myelin influences the ability of cells to attach and spread and that it is the actual presence of myelin which is inhibitory rather than the presence of optic nerve axons or oligodendrocytes. ..

More Information

Publications82

  1. Baumann N, Maurin Y. Neuronal expression of mutations affecting primarily glia in the mouse: studies in the dysmyelinated and convulsive mutant quaking. J Physiol (Paris). 1987;82:271-8 pubmed
    ..5. Electrolytic coagulation of the locus coeruleus inhibits the convulsions of the quaking mice. 6...
  2. Larocque D, Galarneau A, Liu H, Scott M, Almazan G, Richard S. Protection of p27(Kip1) mRNA by quaking RNA binding proteins promotes oligodendrocyte differentiation. Nat Neurosci. 2005;8:27-33 pubmed
    ..Our findings demonstrate that QKI is upstream of p27(Kip1) during oligodendrocyte differentiation. ..
  3. Chénard C, Richard S. New implications for the QUAKING RNA binding protein in human disease. J Neurosci Res. 2008;86:233-42 pubmed
    ..In this Mini-Review, we highlight the biological functions attributed to this KH-type RNA binding protein and the recent achievements linking it to human disorders. ..
  4. Xu W, Manichella D, Jiang H, Vallat J, Lilien J, Baron P, et al. Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis. J Neurosci Res. 2000;60:714-24 pubmed
    ..Taken together, these results demonstrate that P0 is involved, either directly or indirectly, in the regulation of both myelin gene expression and myelin morphogenesis. ..
  5. Braun P, Horvath E, Edwards A. Two isoforms of myelin-associated glycoprotein accumulate in quaking mice: only the large polypeptide is phosphorylated. Dev Neurosci. 1990;12:286-92 pubmed
    ..The L-MAG but not the S-MAG polypeptide can be phosphorylated by kinases that are endogenous to isolated qk myelin, analogous to the phosphorylation we have observed in vivo in normal mice and in their isolated myelin. ..
  6. Levine S. Oligodendrocytes and myelin sheaths in normal, quaking and shiverer brains are enriched in iron. J Neurosci Res. 1991;29:413-9 pubmed
    ..This result indicates a concentration of iron in these structures and may be important for understanding how high concentrations of iron are processed by oligodendrocytes. ..
  7. Nikulina E, Skrinskaya J, Avgustinovich D, Popova N. Dopaminergic brain system in the quaking mutant mouse. Pharmacol Biochem Behav. 1995;50:333-7 pubmed
    b>Quaking mice (qk/qk), autosomal recessive mutants with central nervous system dysmyelinization, characterized behaviorally by abnormal locomotion and tremor, are found to have altered brain dopaminergic system parameters, in comparison ..
  8. Banik N, Chakrabarti A, Gantt G, Hogan E. Distribution of calcium-activated neutral proteinase activity in quaking mouse brain: a subcellular study. Brain Res. 1987;435:57-62 pubmed
    ..These results suggest that in quaking brain much of the CANP is not incorporated into the myelin membrane and remains cytosolic. ..
  9. Jolesz F, Kirschner D, Jakab P, Lorenzo A. Proton magnetic resonance in myelin deficient brains of mutant mice. J Neurol Sci. 1989;91:85-96 pubmed
  10. Hardy R, Loushin C, Friedrich V, Chen Q, Ebersole T, Lazzarini R, et al. Neural cell type-specific expression of QKI proteins is altered in quakingviable mutant mice. J Neurosci. 1996;16:7941-9 pubmed
    ..These observations implicate QKI proteins as regulators of myelination and reveal key insights into the mechanisms of dysmyelination in the quakingviable mutant. ..
  11. Wilson G, Wang H, Egan G, Robinson P, Delatycki M, O Bryan M, et al. Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse. Hum Mol Genet. 2010;19:1593-602 pubmed publisher
    ..This study provides novel in vivo evidence that Pacrg is required for motile cilia function and may be involved in the pathogenesis of human ciliopathies, such as HC, asthenospermia and primary ciliary dyskinesia. ..
  12. Noveroske J, Hardy R, Dapper J, Vogel H, Justice M. A new ENU-induced allele of mouse quaking causes severe CNS dysmyelination. Mamm Genome. 2005;16:672-82 pubmed
    ..Because the qk(v) allele is a large deletion that affects the expression of three genes, the new neurologic qk(e5) allele is an important addition to this allelic series. ..
  13. Bartoszewicz Z, Noronha A, Fujita N, Sato S, Bo L, Trapp B, et al. Abnormal expression and glycosylation of the large and small isoforms of myelin-associated glycoprotein in dysmyelinating quaking mutants. J Neurosci Res. 1995;41:27-38 pubmed
    ..Using antisera specific for L- and S-MAG, respectively, it was shown that S-MAG is the principal isoform in quaking mice at all ages between 13 and 72 days, although L-MAG was just detectable by western blotting at the early ages...
  14. Agrawal H, Agrawal D, Yoshimura T, Benjamins J. In vitro acylation of myelin PLP and DM-20 in the quaking mouse brain. Neurochem Res. 1987;12:783-6 pubmed
    ..Brain slices from littermate control and quaking mice were incubated with [3H]palmitic acid to determine the incorporation of fatty acid into myelin proteolipid ..
  15. Zhao L, Ku L, Chen Y, Xia M, LoPresti P, Feng Y. QKI binds MAP1B mRNA and enhances MAP1B expression during oligodendrocyte development. Mol Biol Cell. 2006;17:4179-86 pubmed
    ..Because QKI is absent in neurons, QKI-dependent stabilization of MAP1B mRNA provides a novel mechanism for advancing MAP1B expression specifically in oligodendroglia during brain development...
  16. Cook C, Barnett J, Coupland K, Sargent J. Effects of feeding Lunaria oil rich in nervonic and erucic acids on the fatty acid compositions of sphingomyelins from erythrocytes, liver, and brain of the quaking mouse mutant. Lipids. 1998;33:993-1000 pubmed
    ..in their brain sphingomyelin, accompanied by an increased percentage of 18:0, as compared to heterozygous quaking mice. However, the percentage of 24:1n-9 in brain sphingomyelin in qk...
  17. Sorrentino V, McKinney M, Giorgi M, Geremia R, Fleissner E. Expression of cellular protooncogenes in the mouse male germ line: a distinctive 2.4-kilobase pim-1 transcript is expressed in haploid postmeiotic cells. Proc Natl Acad Sci U S A. 1988;85:2191-5 pubmed
    ..In particular, analysis of expression of the three members of the ras gene family indicates a distinct temporal differential regulation in the expression of the Harvey, Kirsten, and N-ras genes in these germ cells...
  18. Justice M, Bode V. Genetic analysis of mouse t haplotypes using mutations induced by ethylnitrosourea mutagenesis: the order of T and qk is inverted in t mutants. Genetics. 1988;120:533-43 pubmed
    ..Furthermore, the reduced recombination frequency between T and qk may indicate that the proximal gene rearrangement is not a simple inversion...
  19. Anniko M. Specific pathology of the stria vascularis in postnatal progressive genetic inner ear disorder. Hear Res. 1982;6:247-58 pubmed
    ..Occasionally such inclusions occurred in marginal cells. In the Shaker-1 (Sh-1) a flattening of intermediate cells occurred but otherwise no pathological changes were found 6--9 weeks after birth...
  20. Larocque D, Richard S. QUAKING KH domain proteins as regulators of glial cell fate and myelination. RNA Biol. 2005;2:37-40 pubmed
    ..Herein, we discuss the recent advances in characterizing the QKI KH-type proteins as glial cell fate and myelin egulators...
  21. Lorenzetti D, Bishop C, Justice M. Deletion of the Parkin coregulated gene causes male sterility in the quaking(viable) mouse mutant. Proc Natl Acad Sci U S A. 2004;101:8402-7 pubmed
    ..Remarkably, the mammalian Pacrg protein shares significant sequence similarities with gene products from flagellated protozoans, suggesting that Pacrg may be necessary for proper flagellar formation in many organisms...
  22. Lorenzetti D, Antalffy B, Vogel H, Noveroske J, Armstrong D, Justice M. The neurological mutant quaking(viable) is Parkin deficient. Mamm Genome. 2004;15:210-7 pubmed
    ..This is the first report of a gene distinct from qkI affected by the qk(v) deletion. The discovery of the multigenic nature of this classical mouse mutation calls for the re-evaluation of its phenotypic characterization...
  23. Campagnoni A, Verdi J, Verity A, Amur Umarjee S, Byravan S. Posttranscriptional regulation of myelin protein gene expression. Ann N Y Acad Sci. 1991;633:178-88 pubmed
    ..We have also determined that the protein synthetic step modulated by the steroids is chain initiation, enhancing the rate at which new ribosomal subunits bind to the MBP mRNAs...
  24. Bhat S, Silberberg D. NCAM-180, the largest component of the neural cell adhesion molecule, is reduced in dysmyelinating quaking mutant mouse brain. Brain Res. 1988;452:373-7 pubmed
    ..This suggests that the defective myelin compaction in the quaking mutation may be the result of a deficiency of NCAM-180...
  25. Mikoshiba K, Nagaike K, Aoki E, Tsukada Y. Biochemical and immunohistochemical studies on dysmyelination of quaking mutant mice in vivo and in vitro. Brain Res. 1979;177:287-99 pubmed
    ..We found, by measuring CNPase activity, that myelination in the central nervous system of quaking mice was affected to a different degree in different areas...
  26. Cox R, Hugill A, Shedlovsky A, Noveroske J, Best S, Justice M, et al. Contrasting effects of ENU induced embryonic lethal mutations of the quaking gene. Genomics. 1999;57:333-41 pubmed
    ..This mutational analysis demonstrates the power of series of alleles to examine the function of complex loci and suggests that additional mutant alleles of quaking could reveal additional functions of this complex gene...
  27. Zorn A, Krieg P. The KH domain protein encoded by quaking functions as a dimer and is essential for notochord development in Xenopus embryos. Genes Dev. 1997;11:2176-90 pubmed
    ..Xqua function appears to be required for the accumulation of important mRNAs such as Xnot, Xbra, and gsc. These results indicate an essential role for the quaking RNA-binding protein during early vertebrate embryogenesis...
  28. Mitrovic N, Besson M, Maurin Y. Anticonvulsant effects of antagonists of the N-methyl-D-aspartate receptor complex in a genetic model of epilepsy: the quaking mouse. Eur J Pharmacol. 1990;176:357-61 pubmed
    Tonic-clonic convulsions of mutant quaking mice were antagonized by the intracerebroventricular injection of N-methyl-D-aspartate receptor antagonists...
  29. Bignami A, Perides G. Glial hyaluronate-binding protein in dysmyelinating mice mutants: jimpy, quaking and shiverer. Acta Neuropathol. 1989;79:326-9 pubmed
    ..The findings suggest that GHAP expression by astrocytes is not induced by myelination and that white matter astrocytes constitute a distinct glial population...
  30. Frail D, Braun P. Abnormal expression of the myelin-associated glycoprotein in the central nervous system of dysmyelinating mutant mice. J Neurochem. 1985;45:1071-5 pubmed
    ..Finally, shi/shi mutants may have a delayed synthesis of MAG. The data are discussed in the light of recent observations concerning the synthesis of myelin proteins and their proposed role in myelin assembly...
  31. Wolf M, Billings Gagliardi S. Quaking shiverer double mutant mice: morphological phenotypes support possible dual actions of the shiverer locus. Brain Res. 1988;461:257-73 pubmed
  32. Fujita N, Sato S, Kurihara T, Inuzuka T, Takahashi Y, Miyatake T. Developmentally regulated alternative splicing of brain myelin-associated glycoprotein mRNA is lacking in the quaking mouse. FEBS Lett. 1988;232:323-7 pubmed
    ..In quaking mouse, the mRNA without a 45-nucleotide exon portion was scarcely expressed throughout development. We conclude that the mechanism of splicing out the 45-nucleotide exon portion is lacking in quaking mouse...
  33. Zhao L, Tian D, Xia M, Macklin W, Feng Y. Rescuing qkV dysmyelination by a single isoform of the selective RNA-binding protein QKI. J Neurosci. 2006;26:11278-86 pubmed
    ..Together, our results demonstrate that QKI-6 is the major isoform responsible for CNS myelination, which preferentially promotes MBP expression in oligodendrocytes...
  34. Li Z, Zhang Y, Li D, Feng Y. Destabilization and mislocalization of myelin basic protein mRNAs in quaking dysmyelination lacking the QKI RNA-binding proteins. J Neurosci. 2000;20:4944-53 pubmed
  35. Dapper J, Justice M. Defining the breakpoints of the quaking(viable) mouse mutation reveals a duplication from a Parkin intron. Mov Disord. 2005;20:1369-74 pubmed
    ..This complexity provides insight into a well-studied neurological mutant and may have a role in affecting the phenotype observed...
  36. Fujita N, Sato S, Ishiguro H, Inuzuka T, Baba H, Kurihara T, et al. The large isoform of myelin-associated glycoprotein is scarcely expressed in the quaking mouse brain. J Neurochem. 1990;55:1056-9 pubmed
    ..Our immunohistochemical study also showed that L-MAG was scarcely stained in the quaking mouse brain. These results seemed to reflect a reduction in content of L-MAG mRNA and abnormal glycosylation in the quaking mouse brain...
  37. Tvrdik P, Westerberg R, Silve S, Asadi A, Jakobsson A, Cannon B, et al. Role of a new mammalian gene family in the biosynthesis of very long chain fatty acids and sphingolipids. J Cell Biol. 2000;149:707-18 pubmed
    ..Our results strongly implicate this new mammalian gene family in tissue-specific synthesis of very long chain fatty acids and sphingolipids...
  38. Wu J, Zhou L, Tonissen K, Tee R, Artzt K. The quaking I-5 protein (QKI-5) has a novel nuclear localization signal and shuttles between the nucleus and the cytoplasm. J Biol Chem. 1999;274:29202-10 pubmed
    ..Furthermore, using an interspecies heterokaryon assay, we found that QKI-5, but not another STAR protein ETLE, shuttles between the nucleus and the cytoplasm, which suggests that QKI-5 functions in both cell compartments...
  39. Le Saux F, Besson M, Maurin Y. Abnormal postnatal ontogeny of the locus coeruleus in the epileptic mutant mouse quaking. Brain Res Dev Brain Res. 2002;136:197-205 pubmed
    ..These results indicate that the hyperplasia of the locus coeruleus of the quaking mice that we had previously reported results from an alteration of the postnatal maturation of this nucleus...
  40. Lu Z, Ku L, Chen Y, Feng Y. Developmental abnormalities of myelin basic protein expression in fyn knock-out brain reveal a role of Fyn in posttranscriptional regulation. J Biol Chem. 2005;280:389-95 pubmed
  41. Chubb C. Oligotriche and quaking gene mutations. Phenotypic effects on mouse spermatogenesis and testicular steroidogenesis. J Androl. 1992;13:312-7 pubmed
    ..The results provide the first evidence that the oligotriche gene mutation induces male mouse sterility by effecting the complete absence of a sperm tail. This phenotypic action is different from that of the quaking gene mutation...
  42. Mitrovic N, Caboche J, Carre J, Besson M, Maurin Y. The quaking mouse: an epileptic mutant with alterations affecting the modulatory mechanisms of the NMDA receptor complex. Brain Res. 1991;566:248-54 pubmed
    ..The density of [3H]glutamate binding sites did not differ between the quaking mice and their controls of the same strain...
  43. Poltorak M, Freed W. Cerebellar allografts in brain of quaking mice. Exp Brain Res. 1988;71:163-70 pubmed
    Fragments of normal embryonic cerebellum were transplanted into adult Quaking mice to examine using peroxidase-antiperoxidase immunocytochemistry the development of genetically normal tissue in an abnormal host environment...
  44. Kilby P, Bolas N, Radda G. 31P-NMR study of brain phospholipid structures in vivo. Biochim Biophys Acta. 1991;1085:257-64 pubmed
    ..These NMR methods for non-invasive investigation of phospholipid structures in the brain might be extended to studies of patients with membrane involved diseases such as multiple sclerosis...
  45. Fujita N, Sato S, Kurihara T, Kuwano R, Sakimura K, Inuzuka T, et al. cDNA cloning of mouse myelin-associated glycoprotein: a novel alternative splicing pattern. Biochem Biophys Res Commun. 1989;165:1162-9 pubmed
    ..Northern blot analysis using specific probes to mRNAs with or without the exon 2 portion in normal and quaking mouse confirmed that the splicing of exon 2 and 12 occurred independently...
  46. Wolf M, Nunnari J, Billings Gagliardi S. Quaking*shiverer double-mutant mice survive for at least 100 days with no CNS myelin. Dev Neurosci. 1999;21:483-90 pubmed
    ..We demonstrate that quaking*shiverer double-mutant mice can survive for at least 100 days without any CNS myelin whatsoever. Therefore, at least for a mouse, absence of CNS myelin is not lethal per se...
  47. Pilotte J, Larocque D, Richard S. Nuclear translocation controlled by alternatively spliced isoforms inactivates the QUAKING apoptotic inducer. Genes Dev. 2001;15:845-58 pubmed
    ..Moreover, our findings suggest that nuclear translocation is a novel mechanism of inactivating apoptotic inducers...
  48. Galarneau A, Richard S. Target RNA motif and target mRNAs of the Quaking STAR protein. Nat Struct Mol Biol. 2005;12:691-8 pubmed
    ..In addition, 24% are implicated in cell growth and/or maintenance, suggesting a role for QKI in cancer...
  49. Popko B, Puckett C, Lai E, Shine H, Readhead C, Takahashi N, et al. Myelin deficient mice: expression of myelin basic protein and generation of mice with varying levels of myelin. Cell. 1987;48:713-21 pubmed
    ..The availability of a range of mice expressing graded levels of myelin should facilitate quantitative analysis of the roles of MBP in the myelination process and of myelin in nerve function...
  50. Readhead C, Popko B, Takahashi N, Shine H, Saavedra R, Sidman R, et al. Expression of a myelin basic protein gene in transgenic shiverer mice: correction of the dysmyelinating phenotype. Cell. 1987;48:703-12 pubmed
    ..Moreover, the four different forms of MBP produced by alternative patterns of RNA splicing are present. These homozygous transgenic shiverer mice no longer shiver nor die prematurely...
  51. Shedlovsky A, King T, Dove W. Saturation germ line mutagenesis of the murine t region including a lethal allele at the quaking locus. Proc Natl Acad Sci U S A. 1988;85:180-4 pubmed
    ..One lethal mutation is an allele at the quaking locus. The multiple alleles of quaking and the feasibility of high-resolution mapping permit investigation of the pleiotropic action of this locus in mammalian development...
  52. Bedell M, Jenkins N, Copeland N. Good genes in bad neighbourhoods. Nat Genet. 1996;12:229-32 pubmed
  53. Konat G, Trojanowska M, Gantt G, Hogan E. Expression of myelin protein genes in quaking mouse brain. J Neurosci Res. 1988;20:19-22 pubmed
    ..The results indicate a reduced expression of the PLP and BP genes and a developmental delay in the mutant, whereas the genetic expression of MAG is enhanced and appears to be progressively dysregulated...
  54. Justice M, Bode V. Three ENU-induced alleles of the murine quaking locus are recessive embryonic lethal mutations. Genet Res. 1988;51:95-102 pubmed
  55. Ryder S, Williamson J. Specificity of the STAR/GSG domain protein Qk1: implications for the regulation of myelination. RNA. 2004;10:1449-58 pubmed
    ..Several consensus sites are present in the 3'-UTR of MBP mRNA. The highest affinity site is located within the RNA localization region, suggesting a possible role for Qk1 in restricting MBP mRNA to the myelin compartment...
  56. King T, Dove W. Pleiotropic action of the murine quaking locus: structure of the qkv allele. Mamm Genome. 1991;1:47-52 pubmed
    ..This variability of two-factor map values leads to the preferred multilocus map-building protocol discussed in the accompanying paper...
  57. Larocque D, Pilotte J, Chen T, Cloutier F, Massie B, Pedraza L, et al. Nuclear retention of MBP mRNAs in the quaking viable mice. Neuron. 2002;36:815-29 pubmed
    ..MBP mRNA export defect leads to a reduction in the MBP levels and their improper cellular targeting to the periphery. Our findings suggest that QKI participates in myelination by regulating the mRNA export of key protein components...
  58. Burguet J, Andrey P, Rampin O, Maurin Y. Three-dimensional statistical modeling of neuronal populations: illustration with spatial localization of supernumerary neurons in the locus coeruleus of quaking mutant mice. J Comp Neurol. 2009;513:483-95 pubmed publisher
    ..was applied to the spatial distribution of locus coeruleus (LC) neurons of 30- and 90-day-old control and quaking mice. By combining 12 3D models of the LC, a region of the nucleus in which a subpopulation of neurons loses its ..
  59. Barbarese E. Spatial distribution of myelin basic protein mRNA and polypeptide in quaking oligodendrocytes in culture. J Neurosci Res. 1991;29:271-81 pubmed
    ..This step appears to be blocked in qk oligodendrocytes in culture...
  60. Tucker T, Kundert J, Bondareva A, Schmidt E. Reproductive and neurological Quaking(viable) phenotypes in a severe combined immune deficient mouse background. Immunogenetics. 2005;57:226-31 pubmed
    ..Physiologically, quaking mice exhibit dysmyelination and postmeiotic spermatogenic arrest...
  61. Finnell R, Abbott L, Taylor S. The fetal hydantoin syndrome: answers from a mouse model. Reprod Toxicol. 1989;3:127-33 pubmed
    ..An animal model such as the one described in this paper serves as a valuable adjunct to human clinical studies, and may serve to shorten the distance between our current understanding and our goal of preventing preventable birth defects...
  62. Chen H, Sun P, Parmantier E, Cabon F, Dupouey P, Zalc B, et al. Developmental expression of glial fibrillary acidic protein and actin-encoding messages in quaking and control mice. Dev Neurosci. 1992;14:351-6 pubmed
    ..Both the actin and the GFAP message were found to be increased in the adult mutant throughout the CNS. In 2-year-old normal mice the messengers for both cytoskeleton proteins were expressed in a higher amount than in young adults...
  63. DasGupta S, Everhart M, Bhat N, Hogan E. Neutral monoglycosylceramides in rat brain: occurrence, molecular expression and developmental variation. Dev Neurosci. 1997;19:152-61 pubmed
    ..A reduction in brain FMC concentrations along with GalCer in murine genetic dysmyelinating disorders (jimpy and quaking) further supports the conclusion that they are myelin constituents...
  64. Zhang Y, Feng Y. Distinct molecular mechanisms lead to diminished myelin basic protein and 2',3'-cyclic nucleotide 3'-phosphodiesterase in qk(v) dysmyelination. J Neurochem. 2001;77:165-72 pubmed
  65. Cox R, Shedlovsky A, Hamvas R, Goldsworthy M, Whittington J, Connelly C, et al. A 1.2-Mb YAC contig spans the quaking region. Genomics. 1994;21:77-84 pubmed
    ..This contig will form the basis for identification and mapping of expressed sequences and for an investigation of genome organization...
  66. Kuchler S, Zanetta J, Zaepfel M, Badache A, Sarlieve L, Gumpel M, et al. Endogenous cerebellar soluble lectin and its ligands in central nervous system myelin of quaking and jimpy mutant mice. Dev Neurosci. 1990;12:382-97 pubmed
    ..and an axonal glycoprotein with a relative molecular weight (Mr) of 31 kilodaltons (kDa) were not decreased in quaking mice. This contrasted with several glycoproteins of Mr 23, 18, 16 and 12 kDa which were absent from the purified ..
  67. Lu Z, Zhang Y, Ku L, Wang H, Ahmadian A, Feng Y. The quakingviable mutation affects qkI mRNA expression specifically in myelin-producing cells of the nervous system. Nucleic Acids Res. 2003;31:4616-24 pubmed
    ..These observations suggest that diminished qkI expression results from deletion of an enhancer that promotes qkI transcription specifically in myelinating glia during active myelinogenesis...
  68. Gioanni Y, Gioanni H, Mitrovic N. Seizures can be triggered by stimulating non-cortical structures in the quaking mutant mouse. Epilepsy Res. 1991;9:19-31 pubmed
    Mutant Quaking mice (C57BL/6J) display convulsive tonic-clonic seizures that can be either spontaneous or triggered by manipulation of the animal or by auditory stimulation...
  69. Ebersole T, Rho O, Artzt K. The proximal end of mouse chromosome 17: new molecular markers identify a deletion associated with quakingviable. Genetics. 1992;131:183-90 pubmed
    ..Au217I and II map to the large inverted repeats found at the proximal end of the wild-type chromosome. In addition, the Au217I and/or II loci encode testis transcripts not expressed from t-haplotypes...
  70. Mezquita J, Pau M, Mezquita C. Four isoforms of the signal-transduction and RNA-binding protein QKI expressed during chicken spermatogenesis. Mol Reprod Dev. 1998;50:70-8 pubmed
    ..The 5-kb message, the predominant form in adult testis, presents heterogeneity in the coding region, showing insertions of 51 and 75 bp and a deletion of 24 bp, which gives rise to four possible isoforms of the protein...
  71. Kurihara T, Takahashi Y, Fujita N, Sato S, Miyatake T. Developmental expression of 2',3'-cyclic-nucleotide 3'-phosphodiesterase mRNA in brains of normal and quaking mice. Brain Res Mol Brain Res. 1989;5:247-50 pubmed
    ..At all stages of development studied, the mRNA bands in quaking mice were markedly reduced as compared with those in normal mice.
  72. Campagnoni C, Garbay B, Micevych P, Pribyl T, Kampf K, Handley V, et al. DM20 mRNA splice product of the myelin proteolipid protein gene is expressed in the murine heart. J Neurosci Res. 1992;33:148-55 pubmed
    ..These results indicate that the PLP gene is expressed in tissues other than brain and support the concept that products of the PLP gene may have some biological role other than as structural components of myelin...
  73. Kondo T, Furuta T, Mitsunaga K, Ebersole T, Shichiri M, Wu J, et al. Genomic organization and expression analysis of the mouse qkI locus. Mamm Genome. 1999;10:662-9 pubmed
    ..Alternative transcripts that share the same 3'-UTR showed very similar expression patterns, suggesting a regulatory role of the 3'-UTRs in qkI gene expression...