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Allele : Myo7a<polka> myosin VIIA; polka

Primary Identifier	MGI:3708382	Allele Type	Chemically induced (ENU)
Gene	Myo7a	Inheritance Mode	Recessive
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false

molecularNote

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.

mutations:
Single point mutation

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

5 Publication categories

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