Myo7a^sh1
Spontaneous Allele Detail

Summary

• Symbol: Myo7a^sh1
• 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: Myo7a^sh1 page

Cochlear hair cell abnormalities in Myo7a^Hdb/Myo7a⁺, Myo7a^Hdb/Myo7a⁺ Myo7a^4626SB/Myo7a⁺, and Myo7a^sh1/Myo7a^sh1 mice

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

Mutation origin

• Strain of Origin: BALB at F12

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

8 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 Myo7a Mutation: 118 strains or lines available

References

• 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)