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| Nomenclature |
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Symbol:
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Myo5ad-n
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Name:
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myosin VA;
dilute neurological
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MGI ID: |
MGI:1856008 |
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Gene:
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Myo5a
Location:
Chr9:75071015-75223688 bp, + strand
Genetic Position: Chr9,
42.26 cM
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Mutation
origin |
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Strain of Origin:
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B10.D2-H2d/nSnJ
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: Genomic sequence analysis showed this mutation results from a C5558T transition that introduces a stop codon at residue 1840 of the protein. mRNA levels are not significantly affected; however protein levels are dramatically reduced. (J:47547)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Myo5ad-n, dilute-neurological, recessive. This mutation arose in the B10.D2/nSnJ congenic strain (J:16313). Homozygotes display a neuromuscular disorder, but the condition is less severe than in Myo5ad-l homozygotes (M.T. Davisson, 1996, personal communication).
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| References |
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Original: |
J:16313
Sweet HO,
"Remutations at The Jackson Laboratory"
Mouse Genome 1993;91(4):862-65
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All: |
3 reference(s)
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Analysis Tools
