Myo7a<4494SB> Chemically induced Allele Detail MGI Mouse (MGI:2155421)

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Myo7a^4494SB
Chemically induced Allele Detail

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

Summary

Symbol:	Myo7a^4494SB
Name:	myosin VIIA; shaker 4494SB
MGI ID:	MGI:2155421
Synonyms:	Myo7a^sh1-4R, sh1^4494SB, sh1^OR-4494SB
Gene:	Myo7a Location: Chr7:97700267-97768731 bp, - strand Genetic Position: Chr7, 53.57 cM
Alliance:	Myo7a^4494SB page

Mutation
origin

Strain of Origin:

BALB/cRl

Mutation
description

Allele Type:		Chemically induced (ENU)
Mutation:		Inversion
		Mutation details: A small 6 nt inversion and substitution of two T nucleotides with a single A resulted in a frameshift and introduction of a stop codon 5 amino acids downstream in the encoded protein. This mutation is predicted to lie in the head domain of the protein. Northern blot analysis indicated that mRNA expression, size, and stability were unaffected. Immunoblot analysis showed that less than 1% of the normal level of the protein was expressed. (J:49926)
Inheritance:		Recessive

Phenotypes

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

Disease models

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:73419 Rinchik EM, et al., Reverse genetics in the mouse and its application to the study of deafness. Ann N Y Acad Sci. 1991;630:80-92
All:	6 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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