Myo7a^sh1-6J
Spontaneous Allele Detail

Summary

• Symbol: Myo7a^sh1-6J
• Name: myosin VIIA; shaker 1, 6 Jackson
• MGI ID: MGI:1860092
• Synonyms: Myo7a^6J, sh^6J
• Gene: Myo7a Location: Chr7:97700267-97768731 bp, - strand Genetic Position: Chr7, 53.57 cM
• Alliance: Myo7a^sh1-6J page

Mutation origin

• Strain of Origin: BKS.Cg-Dock7^m Lepr^db

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 241 in the encoded protein (p.R241P). 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 approximately 20% of the normal level of the protein was expressed. (J:23257)
• Inheritance: Recessive

Disease models

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 Myo7a Mutation: 118 strains or lines available

References

• Original: J:17340 Letts VA, et al., Remutation at the shaker-1 locus. Mouse Genome. 1994;92(1):116
• All: 9 reference(s)