Myo7apolka
Chemically induced Allele Detail
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Symbol: |
Myo7apolka |
Name: |
myosin VIIA; polka |
MGI ID: |
MGI:3708382 |
Gene: |
Myo7a Location: Chr7:98051060-98119524 bp, - strand Genetic Position: Chr7, 53.57 cM
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Strain of Origin: |
C57BL/6J |
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Allele Type: |
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Chemically induced (ENU) |
Mutation: |
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Single point mutation
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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)
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Inheritance: |
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Recessive |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Myo7a Mutation: |
77 strains or lines available
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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) |
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