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Targeted Allele Detail
Symbol: Gjb6tm1.1Fama
Name: gap junction protein, beta 6; targeted mutation 1.1, Fabio Mammano
MGI ID: MGI:4848154
Synonyms: Cx30T5M
Gene: Gjb6  Location: Chr14:57123303-57133611 bp, - strand  Genetic Position: Chr14, 30.1 cM
Germline Transmission:  Earliest citation of germline transmission: J:166362
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprtb-m3
Allele Type:    Targeted
Mutations:    Insertion, Intragenic deletion
Mutation detailsA portion of the coding region was replaced with the corresponding human sequence containing nucleotide substitutions that result in the amino acid substitution of methionine for threonine at position 5 (T5M) followed by an IRES, lacZ with a nuclear localization signal, and an FRT-flanked neo cassette. Flp-mediated recombination removed the neo cassette. Reduced protein expression was confirmed by western blot analysis. (J:166362)
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 Gjb6 Mutation:  4 strains or lines available
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:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.0
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