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| Nomenclature |
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Symbol:
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Myo3atm1.1Mckg
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Name:
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myosin IIIA;
targeted mutation 1.1, Mary-Claire King
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MGI ID: |
MGI:4849286 |
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Synonyms: |
Myo3aKI |
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Gene:
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Myo3a
Location:
Chr2:22227505-22618247 bp, + strand
Genetic Position: Chr2,
15.15 cM, cytoband A3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:166812
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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C57BL/6
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: A targeting construct was designed to insert the nonsense mutation TAT>TAG at codon 1041 of the myosin IIIA (Myo3a) gene. This mutation, corresponding to human codon 1042, results in a stop codon in exon 28 commonly found in humans with adult on-set hearing loss DFNB30. Also, an ACN cassette was placed upstream of exon 28. The ACN cassette, containing the neomycin resistance gene and Cre recombinase gene under the control of angiotensin-converting enzyme promoter, is flanked by loxP sites. Cre-mediated recombination during spermatogenesis removed the cassette leaving one loxP site. (J:166812)
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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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| References |
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Original: |
J:166812
Walsh VL et al.,
"A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA."
Mamm Genome 2010 Dec 17;():
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All: |
1 reference(s)
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Analysis Tools
