Myo7a<sh1-6J> Spontaneous Allele Detail MGI Mouse (MGI:1860092)

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:

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

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:17340 Letts VA, et al., Remutation at the shaker-1 locus. Mouse Genome. 1994;92(1):116
All:	9 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24