Gjb6^tm1.1Fama
Targeted Allele Detail

Summary

• Symbol: Gjb6^tm1.1Fama
• Name: gap junction protein, beta 6; targeted mutation 1.1, Fabio Mammano
• MGI ID: MGI:4848154
• Synonyms: Cx30^T5M
• Gene: Gjb6 Location: Chr14:57360760-57370764 bp, - strand Genetic Position: Chr14, 30.1 cM
• Alliance: Gjb6^tm1.1Fama page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:166362
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s), Reporter)
• Mutations: Insertion, Intragenic deletion, Nucleotide substitutions
• Mutation details: A substitution corresponding to a human disease-associated mutation that result in the amino acid substitution of methionine for threonine at position 5 (T5M) was created and downstream of the gene a construct containing an IRES, lacZ with a nuclear localization signal, and an FRT-flanked neo cassette was inserted. Flp-mediated recombination removed the neo cassette. Reduced protein expression was confirmed by western blot analysis. (J:166362)

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 Gjb6 Mutation: 20 strains or lines available

References

• Original: J:166362 Schutz M, et al., The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice. Hum Mol Genet. 2010 Dec 15;19(24):4759-73
• All: 8 reference(s)