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Targeted Allele Detail
Symbol: Gjb6tm1Kwi
Name: gap junction protein, beta 6; targeted mutation 1, Klaus Willecke
MGI ID: MGI:2447863
Synonyms: connexin30-, Cx30-, Cx30lacZ
Gene: Gjb6  Location: Chr14:57123303-57133611 bp, - strand  Genetic Position: Chr14, 30.1 cM
Transmission electron microscopy analysis of stria vascularis capillaries in Gjb6tm1Kwi/Gjb6tm1Kwi mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:80917
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprtb-m3
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
Mutation detailsThe entire coding region of the endogenous locus was replaced by homologous recombination of a cassette containing NLS-lacZ and neo genes. Neither transcript nor protein was detected by Northern and Western blot analyses of brain tissue obtained from homozygous mutant mice. The expression pattern of lacZ was similar to that of the endogenous gene. Expression of Gjb2 mRNA and protein were dramatically reduced in the inner ear of homozygous mice. (J:80917, J:193913)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 5 anatomical structures
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:  8 strains or lines available
Original:  J:80917 Teubner B, et al., Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum Mol Genet. 2003 Jan 1;12(1):13-21
All:  60 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.16
The Jackson Laboratory