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| Nomenclature |
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Symbol:
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Myo7apolka
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Name:
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myosin VIIA;
polka
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MGI ID: |
MGI:3708382 |
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Gene:
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Myo7a
Location:
Chr7:98051060-98119524 bp, - strand
Genetic Position: Chr7,
53.57 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
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: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Myo7a Mutation:
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23 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
