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Spontaneous Allele Detail
Symbol: Myo7ash1
Name: myosin VIIA; shaker 1
MGI ID: MGI:1856716
Synonyms: sh1, shaker-1
Gene: Myo7a  Location: Chr7:97700267-97768731 bp, - strand  Genetic Position: Chr7, 53.57 cM
Alliance: Myo7ash1 page
Cochlear hair cell abnormalities in Myo7aHdb/Myo7a+, Myo7aHdb/Myo7a+ Myo7a4626SB/Myo7a+, and Myo7ash1/Myo7ash1 mice

Show the 1 phenotype image(s) involving this allele.

Strain of Origin:  BALB at F12
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsA G-to-C transversion mutation results in an arginine to proline change at position 502 in the encoded protein (p.R502P). This mutation lies within the head domain of the protein. Northern blot analysis indicated that mRNA expression, size, and stability were unaffected. Immunoblot analysis showed that normal levels of the protein was expressed. (J:23257)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 7 anatomical structures
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 Myo7a Mutation:  77 strains or lines available
Original:  J:15554 Lord EM, et al., Shaker, a new mutation of the house mouse (Mus musculus). Am Naturalist. 1929;63:435-42
All:  27 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
MGI 6.22
The Jackson Laboratory