Myo7a<sh1> Spontaneous Allele Detail MGI Mouse (MGI:1856716)

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

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

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)

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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