Gjb6^tm2.2Kwi
Targeted Allele Detail

Summary

• Symbol: Gjb6^tm2.2Kwi
• Name: gap junction protein, beta 6; targeted mutation 2.2, Klaus Willecke
• MGI ID: MGI:5607781
• Synonyms: Cx30A88V
• Gene: Gjb6 Location: Chr14:57360760-57370764 bp, - strand Genetic Position: Chr14, 30.1 cM
• Alliance: Gjb6^tm2.2Kwi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:208123
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Reporter)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A construct containing a loxP site, the wild-type Gjb6 coding sequence, a frt-flanked neomycin resistance cassette, another loxP site, the Gjb6 coding sequence with a point mutation leading to a substitution of an alanine reside on position 88 by a valine residue (A88V), an IRES, and a lacZ gene with a nuclear localization signal replaced the endogenous locus. The neomycin resistance cassette was removed via flp-mediated recombination. Cre-mediated recombination was used to delete the wild-type Gjb6 coding sequence, leaving the A88V mutant Gjb6, IRES, and the NLS-lacZ. PCR confirmed the expression of the mutant. (J:208123)

Disease models

Expression

In Structures Affected by this Mutation:

4 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: 20 strains or lines available

References

• Original: J:208123 Bosen F, et al., The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice. FEBS Lett. 2014 May 2;588(9):1795-1801
• All: 5 reference(s)