Gjb6^tm1Kwi
Targeted Allele Detail

Summary

• Symbol: Gjb6^tm1Kwi
• Name: gap junction protein, beta 6; targeted mutation 1, Klaus Willecke
• MGI ID: MGI:2447863
• Synonyms: connexin30-, Cx30-, Cx30^lacZ
• Gene: Gjb6 Location: Chr14:57360760-57371068 bp, - strand Genetic Position: Chr14, 30.1 cM
• Alliance: Gjb6^tm1Kwi page

Transmission electron microscopy analysis of stria vascularis capillaries in Gjb6^tm1Kwi/Gjb6^tm1Kwi mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:80917
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The 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)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

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: 18 strains or lines available

References

• 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: 71 reference(s)