Myo7a^polka
Chemically induced Allele Detail

Nomenclature

Symbol:	Myo7a^polka
Name:	myosin VIIA; polka
MGI ID:	MGI:3708382
Gene:	Myo7a  Location: Chr7:98051060-98119524 bp, - strand  Genetic Position: Chr7, 53.57 cM

Mutation origin

Strain of Origin:

C57BL/6J

Mutation description

Allele Type:		Chemically induced (ENU)
Mutation:		Single point mutation
		Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen and did not complement Myo7a. The mutation is a G to A transition at position 5472+5 (reference sequence NM_008663), the fifth position in intron 42. As a result, a cryptic splice site in intron 42 is used resulting in a 49bp insertion between exon 42 and exon 43 and a predicted premature truncation after the first 56 amino acids of the FERM2 domain. This mutation is uniquely present in all mice homozygous for this allele. (J:157102)
Inheritance:		Recessive

Disease models

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Myo7a Mutation:	25 strains or lines available

References

Original:	J:119820 Schwander M, et al., A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci. 2007 Feb 28;27(9):2163-75
All:	3 reference(s)