Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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 details: A 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).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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:	118 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)