Allele/Variant

Myo7apolka

Species
Mus musculus
Symbol
Myo7apolka
Category
allele
Allele of gene
Myo7a
Transgenic Constructs
None
Synonyms
None
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations