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Myo5ad-n
Spontaneous Allele Detail
Summary
Symbol: Myo5ad-n
Name: myosin VA; dilute neurological
MGI ID: MGI:1856008
Gene: Myo5a  Location: Chr9:74978297-75130970 bp, + strand  Genetic Position: Chr9, 42.26 cM
Alliance: Myo5ad-n page
Mutation
origin
Strain of Origin:  B10.D2-H2d/nSnJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsGenomic sequence analysis showed this mutation results from a c.5518C>T transition that introduces a premature stop codon at glutamine 1840 (p.Q1840*). mRNA levels are not significantly affected; however protein levels are dramatically reduced. (J:47547)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Myo5a Mutation:  265 strains or lines available
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).
References
Original:  J:16313 Sweet HO, Remutations at The Jackson Laboratory. Mouse Genome. 1993;91(4):862-65
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory