Myo3a^tm1.1Mckg
Targeted Allele Detail

Summary

• Symbol: Myo3a^tm1.1Mckg
• Name: myosin IIIA; targeted mutation 1.1, Mary-Claire King
• MGI ID: MGI:4849286
• Synonyms: Myo3a^KI
• Gene: Myo3a Location: Chr2:22232314-22508264 bp, + strand Genetic Position: Chr2, 15.15 cM, cytoband A3
• Alliance: Myo3a^tm1.1Mckg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:166812
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• 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)

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: 110 strains or lines available

References

• 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. 2011 Apr;22(3-4):170-7
• All: 1 reference(s)