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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 (Humanized sequence, Inserted expressed sequence, Reporter)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
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)

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 6.04
The Jackson Laboratory