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Targeted Allele Detail
Symbol: Myo3atm1.1Mckg
Name: myosin IIIA; targeted mutation 1.1, Mary-Claire King
MGI ID: MGI:4849286
Synonyms: Myo3aKI
Gene: Myo3a  Location: Chr2:22227505-22618247 bp, + strand  Genetic Position: Chr2, 15.15 cM, cytoband A3
Germline Transmission:  Earliest citation of germline transmission: J:166812
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Myo3a Mutation:  55 strains or lines available
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;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.03
The Jackson Laboratory