Genomes and Genes
Gene Symbol: Mcoln3
Description: mucolipin 3
Alias: 6720490O21Rik, TRPML3, mucolipin-3, transient receptor potential channel mucolipin 3, varitint-waddler
- Castiglioni A, REMIS N, Flores E, Garcia Anoveros J. Expression and vesicular localization of mouse Trpml3 in stria vascularis, hair cells, and vomeronasal and olfactory receptor neurons. J Comp Neurol. 2011;519:1095-1114 pubmed publisher..A dominant missense mutation in Trpml3 (also known as Mcoln3) causes deafness and vestibular impairment characterized by stereocilia disorganization, hair cell loss, and ..
- Kim H, Li Q, Tjon Kon Sang S, So I, Kiselyov K, Muallem S. Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype. J Biol Chem. 2007;282:36138-42 pubmedb>TRPML3 is a member of the TRPML subfamily of the transient receptor potential cation channel superfamily...
- van Aken A, Atiba Davies M, Marcotti W, Goodyear R, Bryant J, Richardson G, et al. TRPML3 mutations cause impaired mechano-electrical transduction and depolarization by an inward-rectifier cation current in auditory hair cells of varitint-waddler mice. J Physiol. 2008;586:5403-18 pubmed publisherb>TRPML3 (mucolipin-3) belongs to one of the transient-receptor-potential (TRP) ion channel families...
- Prochazka M, Staeheli P, Holmes R, Haller O. Interferon-induced guanylate-binding proteins: mapping of the murine Gbp-1 locus to chromosome 3. Virology. 1985;145:273-9 pubmed
- Lane P. Two new mutations in linkage group XVI of the house mouse. Flaky tail and varitint-waddler-J. J Hered. 1972;63:135-40 pubmed
- REMIS N, Wiwatpanit T, Castiglioni A, Flores E, CantÃº J, GarcÃa AÃ±overos J. Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning. PLoS Genet. 2014;10:e1004833 pubmed publisher..before weaning express high levels of two endolysosomal cation channels, mucolipins 3 and 1 -products of Trpml3 and Trpml1 genes; moreover neonatal enterocytes of mice lacking both mucolipins (Trpml3-/-;Trpml1-/-) vacuolated ..
- Goswami C, Hucho T. Submembraneous microtubule cytoskeleton: biochemical and functional interplay of TRP channels with the cytoskeleton. FEBS J. 2008;275:4684-99 pubmed publisher..Thereby, we point out the functional importance of cytoskeleton components both as modulator and as modulated downstream effector. The resulting implications for patho-biological situations are discussed. ..
- Mobraaten L, Bunker H, DeMaeyer Guignard J, Demaeyer E, Bailey D. Location of histocompatibility and interferon loci on chromosome 3 of the mouse. J Hered. 1984;75:233-4 pubmed..The gene order (from centromere) with intervening percent recombination is: ma-19.1(+/- 4.9)-H-23-12.0(+/- 4.0)-VaJ-7.7(+/- 2.2)-H-28-5.9(+/- 2.2)-If-1. ..
- Staaf S, Oerther S, Lucas G, Mattsson J, Ernfors P. Differential regulation of TRP channels in a rat model of neuropathic pain. Pain. 2009;144:187-99 pubmed publisher..Of all TRP channel members, TRPML3 showed the most dramatic change in animals exhibiting neuropathic pain behaviour compared to control animals...
- Cuajungco M, Samie M. The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence. Pflugers Arch. 2008;457:463-73 pubmed publisher..Positional cloning approach has identified two mutations in the TRPML3 (Mcoln3) gene that cause the varitint-waddler mouse phenotypes...
- Jörs S, Grimm C, Becker L, Heller S. Genetic inactivation of Trpml3 does not lead to hearing and vestibular impairment in mice. PLoS ONE. 2010;5:e14317 pubmed publisherb>TRPML3, a member of the transient receptor potential (TRP) family, is an inwardly rectifying, non-selective Ca2+-permeable cation channel that is regulated by extracytosolic Na+ and H+ and can be activated by a variety of small molecules...
- Van Buul P, Tuinenburg Bol Raap A, Goudzwaard H, Seelen C, Beechey C, Natarajan A, et al. Cytogenetic characterization of radiosensitive mouse mutants. Mutat Res. 1991;251:171-9 pubmed..Only Va and dt appear to be associated with some deficiency in DNA repair. ..
- Miao Y, Li G, Zhang X, Xu H, Abraham S. A TRP Channel Senses Lysosome Neutralization by Pathogens to Trigger Their Expulsion. Cell. 2015;161:1306-19 pubmed publisher..This change is detected by mucolipin TRP channel 3 (TRPML3), a transient receptor potential cation channel localized to lysosomes...
- Eicher E, Lane P. Assignment of LH XVI to chromosome 3 in the mouse. J Hered. 1980;71:315-8 pubmed..The genetic location of the breakpoint in the reciprocal translocation T(2:3)24H is placed between the Amy-1 and Va loci. A new simplified method for determining the Amy-1 and Amy-2 genotype of mice is presented. ..
- Lane P, Eicher E. Gene order in linkage group XVI of the house mouse. J Hered. 1979;70:239-44 pubmed..We conclude that LG XVI is not carried on Chr 12, and preliminary data indicates it is most likely carried on Chr 3. ..
- CURRY G. Genetical and development studies on droopy-eared mice. J Embryol Exp Morphol. 1959;7:39-65 pubmed
- Holmes R, Albanese R, Whitehead F, Duley J. Mouse alcohol dehydrogenase isozymes: products of closely localized duplicate genes exhibiting divergent kinetic properties. J Exp Zool. 1981;217:151-7 pubmed
- Kocher W. [Studies on the genetics and pathology of the development of 8 labyrinth mutants (deaf-waltzer-shaker mutants) in the mouse (Mus musculus)]. Z Vererbungsl. 1960;91:114-40 pubmed
- Lane P, Bronson R, Spencer C. Rostral cerebellar malformation, (rcm): a new recessive mutation on chromosome 3 of the mouse. J Hered. 1992;83:315-8 pubmed..The mutation, called rostral cerebellar malformation, rcm, has been located on chromosome (Chr) 3 between the alcohol dehydrogenase-3 (Adh-3) complex and varitint waddler-J (VaJ).
- Steele E, Lyon M, Favor J, Guillot P, Boyd Y, Church R. A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract. Curr Eye Res. 1998;17:883-9 pubmed..The aim of this work was to identify and subsequently screen an optimal candidate gene for a mutation correlated and consistent with the observed phenotype...
- Cools A. Asymmetrical spotting and direction of circling in the varitint-waddler mouse. J Hered. 1972;63:167-71 pubmed
- Taylor B. Linkage of the cadmium resistance locus to loci on mouse chromosome 12. J Hered. 1976;67:389-90 pubmed..A 3-point cross involving Va, cdm, and amylase-1 (Amy-1) indicated the following gene order and approximate distances: Va-8-cdm-17-Amy-1. The cdm locus is the first polymorphic locus to be placed on Chromosome 12. ..
- Cabraja M, Bäurle J. Vestibular ganglion neurons survive hair cell defects in jerker, shaker, and Varitint-waddler mutants and downregulate calretinin expression. J Comp Neurol. 2007;504:418-26 pubmed..Whether the decrease in Calr expression may reflect biochemical adaptations in response to input disturbances or a specific loss of large BNs is discussed. ..
- Atiba Davies M, Noben Trauth K. TRPML3 and hearing loss in the varitint-waddler mouse. Biochim Biophys Acta. 2007;1772:1028-31 pubmedTRPML3 (also known as mucolipin-3, MCOLN3) belongs to the small family of TRPML ion channel proteins...
- Calderon A, Derr A, Stagner B, Johnson K, Martin G, Noben Trauth K. Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse. Hear Res. 2006;221:44-58 pubmed..Genome-wide linkage scans of backcross, intercross, and congenic progeny revealed a complex pattern of genetic and stochastic effects. ..
- Duley J, Holmes R. Biochemical genetics of aldehyde reductase in the mouse: Ahr-1--a new locus linked to the alcohol dehydrogenase gene complex on chromosome 3. Biochem Genet. 1982;20:1067-83 pubmed..It is proposed that Ahr-1 is a product of a gene duplication event during mammalian evolution of the primordial mammalian Adh locus and that considerable divergence in catalytic properties has subsequently occurred. ..
- Marks S, Lane P. Osteopetrosis, a new recessive skeletal mutation on chromosome 12 of the mouse. J Hered. 1976;67:11-18 pubmed
- Holmes R. Genetics and ontogeny of alcohol dehydrogenase isozymes in the mouse: evidence for a cis-acting regulator gene (Adt-i) controlling C2 isozyme expression in reproductive tissues and close linkage of Adh-3 and Adt-i on chromosome 3. Biochem Genet. 1979;17:461-72 pubmed