Experts and Doctors on alleles in Maine, United States


Locale: Maine, United States
Topic: alleles

Top Publications

  1. Sundberg J, Boggess D, Bascom C, Limberg B, Shultz L, Sundberg B, et al. Lanceolate hair-J (lahJ): a mouse model for human hair disorders. Exp Dermatol. 2000;9:206-18 pubmed
    ..Homozygotes for either of these allelic mouse mutations have elevated serum IgE levels, a feature also common with human Netherton's syndrome. ..
  2. Maddatu T, Naggert J. Allele-specific PCR assays for the tub and cpefat mutations. Mamm Genome. 1997;8:857-8 pubmed
  3. Lutz C, Kariya S, Patruni S, Osborne M, Liu D, Henderson C, et al. Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest. 2011;121:3029-41 pubmed publisher
    ..Nevertheless, our results suggest that even in severe SMA, timely reinstatement of the SMN protein may halt the progression of the disease and serve as an effective postsymptomatic treatment. ..
  4. Lyons M, Wittenburg H, Li R, Walsh K, Korstanje R, Churchill G, et al. Quantitative trait loci that determine lipoprotein cholesterol levels in an intercross of 129S1/SvImJ and CAST/Ei inbred mice. Physiol Genomics. 2004;17:60-8 pubmed
    ..Our analysis furthers the knowledge of the genetic control of lipoprotein levels and points to the importance of Hdlq10, which was detected repeatedly in multiple studies...
  5. Wandersee N, Birkenmeier C, Gifford E, Mohandas N, Barker J. Murine recessive hereditary spherocytosis, sph/sph, is caused by a mutation in the erythroid alpha-spectrin gene. Hematol J. 2000;1:235-42 pubmed
    ..These results predict the heart as an additional site where alpha-spectrin mutations may produce a phenotype and raise the possibility that a novel functional class of small alpha-spectrin isoforms may exist. ..
  6. McCright B, Lozier J, Gridley T. Generation of new Notch2 mutant alleles. Genesis. 2006;44:29-33 pubmed
  7. Bronson R, Donahue L, Samples R, Kim J, Naggert J. Mice with mutations in the mahogany gene Atrn have cerebral spongiform changes. J Neuropathol Exp Neurol. 2001;60:724-30 pubmed
    ..This finding was surprising and raises questions about the mechanism by which mahogany controls appetite and metabolic rate, as recently reported. ..
  8. Ackert Bicknell C, Demissie S, Marin de Evsikova C, Hsu Y, DeMambro V, Karasik D, et al. PPARG by dietary fat interaction influences bone mass in mice and humans. J Bone Miner Res. 2008;23:1398-408 pubmed publisher
    ..These findings suggest that dietary fat has a significant influence on BMD that is dependent on the alleles present for the PPARG gene. ..
  9. Sundberg J, Boggess D, Sundberg B, Eilertsen K, Parimoo S, Filippi M, et al. Asebia-2J (Scd1(ab2J)): a new allele and a model for scarring alopecia. Am J Pathol. 2000;156:2067-75 pubmed

More Information


  1. Zuberi A, Christianson G, Mendoza L, Shastri N, Roopenian D. Positional cloning and molecular characterization of an immunodominant cytotoxic determinant of the mouse H3 minor histocompatibility complex. Immunity. 1998;9:687-98 pubmed
    ..A region of ZFP106 is identical to a 600-amino acid sequence implicated in the insulin receptor signaling pathway. ..
  2. Maddox D, Ikeda S, Ikeda A, Zhang W, Krebs M, Nishina P, et al. An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub Mutant Mice. Invest Ophthalmol Vis Sci. 2012;53:1663-9 pubmed publisher
    ..These results suggest that functionally nonredundant members of the TULP family (TUB and TULP1) share a common functional interaction with MTAP1A. ..
  3. Savinova O, Matsukawa N, Smithies O, John S. Mouse natriuretic peptide receptor 3 gene maps to proximal chromosome 15. Mamm Genome. 1997;8:788 pubmed
  4. Chang B, Bronson R, Hawes N, Roderick T, Peng C, Hageman G, et al. Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis. Invest Ophthalmol Vis Sci. 1994;35:1071-6 pubmed
    ..CONCLUSIONS. The mnd mouse model is similar to the juvenile onset Spielmeyer-Vogt form of ceroid lipofuscinosis (Batten disease), and provides a good model for the retinal degeneration found in these patients. ..
  5. Rowe L, Sweet H, Gordon J, Birkenmeier E. The fld mutation maps near to but distinct from the Apob locus on mouse chromosome 12. Mamm Genome. 1996;7:555-7 pubmed
  6. Schuster Gossler K, Simon Chazottes D, Guenet J, Zachgo J, Gossler A. Gtl2lacZ, an insertional mutation on mouse chromosome 12 with parental origin-dependent phenotype. Mamm Genome. 1996;7:20-4 pubmed
    ..Our results suggest that the transgene insertion in Gtl2lacZ mice affects an endogenous gene(s) required for fetal and postnatal growth and that this gene(s) is predominantly paternally expressed. ..
  7. Taylor B, Navin A, Skryabin B, Brosius J. Localization of the mouse gene (Bc1) encoding neural BC1 RNA near the fibroblast growth factor 3 locus (Fgf3) on distal chromosome 7. Genomics. 1997;44:153-4 pubmed
  8. Berndt A, Li Q, Potter C, Liang Y, Silva K, Kennedy V, et al. A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum. J Invest Dermatol. 2013;133:833-836 pubmed publisher
  9. Zhu X, Libby R, de Vries W, Smith R, Wright D, Bronson R, et al. Mutations in a P-type ATPase gene cause axonal degeneration. PLoS Genet. 2012;8:e1002853 pubmed publisher
    ..Thus, our data demonstrate for the first time that mutation of a mammalian phosphatidylserine translocase causes axon degeneration and neurodegenerative disease. ..
  10. Low B, Krebs M, Joung J, Tsai S, Nishina P, Wiles M. Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN-mediated homology-directed repair. Invest Ophthalmol Vis Sci. 2014;55:387-95 pubmed publisher
    ..The C57BL/6NJ-Crb1(em1Mvw) mice generated by this strategy will enhance ocular phenotyping efforts based on the C57BL/6N background, such as those implemented by the International Mouse Phenotyping Consortium (IMPC) project. ..
  11. Washburn L, Albrecht K, Eicher E. C57BL/6J-T-associated sex reversal in mice is caused by reduced expression of a Mus domesticus Sry allele. Genetics. 2001;158:1675-81 pubmed
    ..domesticus Sry alleles to initiate normal testis development in B6 T(Orl)/+ XY(AKR) mice results from a biologically insufficient level of Sry expression, allowing the ovarian development pathway to proceed. ..
  12. Murray S, Gridley T. Snail1 gene function during early embryo patterning in mice. Cell Cycle. 2006;5:2566-70 pubmed
    ..These results shed new light on the role of Snail family genes in early mouse development, and raise interesting questions concerning the diversity of gene function among vertebrate species...
  13. Beamer W, Tennent B, Shultz K, Nadeau J, Shultz L, Skow L. Gene for ovarian granulosa cell tumor susceptibility, Gct, in SWXJ recombinant inbred strains of mice revealed by dehydroepiandrosterone. Cancer Res. 1988;48:5092-5 pubmed
    ..These data support a heritable basis for GC tumorigenesis in the SWR model involving a small number of genes. ..
  14. Ikeda A, Zheng Q, Zuberi A, Johnson K, Naggert J, Nishina P. Microtubule-associated protein 1A is a modifier of tubby hearing (moth1). Nat Genet. 2002;30:401-5 pubmed
    ..We therefore propose that tub may be associated with synaptic function in neuronal cells. ..
  15. Lyons M, Wittenburg H, Li R, Walsh K, Leonard M, Churchill G, et al. New quantitative trait loci that contribute to cholesterol gallstone formation detected in an intercross of CAST/Ei and 129S1/SvImJ inbred mice. Physiol Genomics. 2003;14:225-39 pubmed
    ..Our work continues to demonstrate the genetic complexity and to elucidate the pathophysiology of cholesterol gallstone formation. It should facilitate the development of new approaches for treating this common human disorder. ..
  16. Krebs M, Collin G, Hicks W, Yu M, Charette J, Shi L, et al. Mouse models of human ocular disease for translational research. PLoS ONE. 2017;12:e0183837 pubmed publisher
  17. Serreze D, Johnson E, Chapman H, Graser R, Marron M, DiLorenzo T, et al. Autoreactive diabetogenic T-cells in NOD mice can efficiently expand from a greatly reduced precursor pool. Diabetes. 2001;50:1992-2000 pubmed
    ..This might allow diabetogenic T-cells in NOD mice to undergo an efficient expansion before encountering antigen, which would represent an important and previously unconsidered aspect of pathogenesis. ..
  18. Fuerst P, Harris B, Johnson K, Burgess R. A novel null allele of mouse DSCAM survives to adulthood on an inbred C3H background with reduced phenotypic variability. Genesis. 2010;48:578-84 pubmed publisher
    ..These results indicate that, in the retina, additional DSCAM-dependent processes can be found by analysis of mutations on different genetic backgrounds. ..
  19. Johnson K, Longo Guess C, Gagnon L. Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia. PLoS ONE. 2012;7:e36074 pubmed publisher
    ..Our finding connecting ELMOD1 deficiencies with stereocilia dysmorphologies thus establishes a link between the Ras superfamily of small regulatory GTPases and the actin cytoskeleton dynamics of hair cell stereocilia. ..
  20. Shorter J, Odet F, Aylor D, Pan W, Kao C, Fu C, et al. Male Infertility Is Responsible for Nearly Half of the Extinction Observed in the Mouse Collaborative Cross. Genetics. 2017;206:557-572 pubmed publisher
    ..These results help clarify the factors that drove strain extinction in the CC, reveal the genetic regions associated with poor fertility in the CC, and serve as a resource to further study mammalian infertility. ..
  21. Rosen C, Ackert Bicknell C, Beamer W, Nelson T, Adamo M, Cohen P, et al. Allelic differences in a quantitative trait locus affecting insulin-like growth factor-I impact skeletal acquisition and body composition. Pediatr Nephrol. 2005;20:255-60 pubmed
    ..Lifelong changes in circulating and skeletal IGF-I may be relevant for the pathophysiology of several diseases, including chronic renal failure. ..
  22. Browning V, Chaudhry S, Planchart A, Dixon M, Schimenti J. Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells. Genomics. 2001;73:291-8 pubmed
  23. Cox G, Mahaffey C, Frankel W. Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele. Neuron. 1998;21:1327-37 pubmed
    ..The identification of the nmd gene and mapping of a major suppressor provide new opportunities for understanding mechanisms of motor neuron degeneration. ..
  24. Johnson K, Cook S, Zheng Q. The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome. Mamm Genome. 1998;9:889-92 pubmed
    ..The genetic relationships described here will aid in positional cloning efforts to identify the genes responsible for the disparate phenotypes associated with the sy locus...
  25. Albrecht K, Eicher E. DNA sequence analysis of Sry alleles (subgenus Mus) implicates misregulation as the cause of C57BL/6J-Y(POS) sex reversal and defines the SRY functional unit. Genetics. 1997;147:1267-77 pubmed
    ..musculus and M. domesticus SRY functional domain is contained in the first 143 amino acids, which includes the HMG domain and adjacent unique region (UR-2). ..
  26. Taylor B, Grieco D, Kohn L. Localization of gene encoding the thyroid stimulating hormone receptor (Tshr) on mouse chromosome 12. Mamm Genome. 1996;7:626-8 pubmed
  27. Crosby J, Phillips S, Nadeau J. The cardiac actin locus (Actc-1) is not on mouse chromosome 17 but is linked to beta 2-microglobulin on chromosome 2. Genomics. 1989;5:19-23 pubmed
    ..Close linkage of Actc-1 and B2m in both man and mouse provides another example of a chromosomal segment that has been conserved since the divergence of the lineages leading to these two species. ..
  28. Birkenmeier E, Davisson M, Beamer W, Ganschow R, Vogler C, Gwynn B, et al. Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency. J Clin Invest. 1989;83:1258-66 pubmed
    ..Analysis of this mutant mouse may offer valuable information on the pathogenesis of human MPS VII and provide a useful system in which to study bone marrow transplantation and gene transfer methods of therapy. ..
  29. Letts V, Kang M, Mahaffey C, Beyer B, Tenbrink H, Campbell K, et al. Phenotypic heterogeneity in the stargazin allelic series. Mamm Genome. 2003;14:506-13 pubmed
  30. Murray S, Carver E, Gridley T. Generation of a Snail1 (Snai1) conditional null allele. Genesis. 2006;44:7-11 pubmed
    ..This conditional null allele will enable investigation of Snai1 function in a variety of developmental and pathological contexts. ..
  31. Krebs L, Deftos M, Bevan M, Gridley T. The Nrarp gene encodes an ankyrin-repeat protein that is transcriptionally regulated by the notch signaling pathway. Dev Biol. 2001;238:110-9 pubmed
    ..These observations demonstrate that the Nrarp gene is an evolutionarily conserved transcriptional target of the Notch signaling pathway. ..
  32. Kiernan A, Xu J, Gridley T. The Notch ligand JAG1 is required for sensory progenitor development in the mammalian inner ear. PLoS Genet. 2006;2:e4 pubmed
    ..These data demonstrate that JAG1-mediated Notch signaling is essential during early development for establishing the prosensory regions of the inner ear. ..
  33. Nadeau J, Berger F, Cox D, Crosby J, Davisson M, Ferrara D, et al. A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11. Genomics. 1989;5:454-62 pubmed
  34. Birkenmeier C, Sharp J, Gifford E, Deveau S, Barker J. An alternative first exon in the distal end of the erythroid ankyrin gene leads to production of a small isoform containing an NH2-terminal membrane anchor. Genomics. 1998;50:79-88 pubmed
    ..Functional testing of the putative transmembrane segment indicates that it acts as a membrane anchor, suggesting that the new Ank1 isoform may play an important role in organizing the contractile apparatus within the cell. ..
  35. Noben Trauth K, Zheng Q, Johnson K, Nishina P. mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics. 1997;44:266-72 pubmed
    ..Our results reveal an epistatic relationship between the mdfw and the dfw genes and provide a model system to study nonsyndromic hearing loss in mice. ..
  36. Reinholdt L, Howell G, Czechanski A, Macalinao D, MacNicoll K, Lin C, et al. Generating embryonic stem cells from the inbred mouse strain DBA/2J, a model of glaucoma and other complex diseases. PLoS ONE. 2012;7:e50081 pubmed publisher
    ..We also demonstrate the utility of DBA/2J ES cells with the creation of conditional knockout allele for Endothelin-2 (Edn2) directly on the DBA/2J strain background...
  37. Serreze D, Prochazka M, Reifsnyder P, Bridgett M, Leiter E. Use of recombinant congenic and congenic strains of NOD mice to identify a new insulin-dependent diabetes resistance gene. J Exp Med. 1994;180:1553-8 pubmed
    ..Our analysis shows the utility of RCS and congenic stocks for the identification and isolation of non-MHC genes with strong antidiabetogenic functions. ..