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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:
Chr9:74918822-75071495 bp, + strand
Genetic Position: Chr9,
42.0 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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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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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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| Genotype | Allelic Composition | Genetic Background |
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  hm1
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Myo5ad-n/Myo5ad-n |
B10.D2-H2d/nSnJ |
pigmentation skin/coat/nails behavior/neurological |
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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: |
2 reference(s)
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