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

Symbol:	Myo7ash1-6J
Name:	myosin VIIA; shaker 1, 6 Jackson
MGI ID:	MGI:1860092
Synonyms:	Myo7a6J, sh6J
Gene:	Myo7a  Location: Chr7:97700267-97768731 bp, - strand  Genetic Position: Chr7, 53.57 cM
Alliance:	Myo7ash1-6J page

Strain of Origin:

BKS.Cg-Dock7m Leprdb

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

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