Gjc2^tm2.1Kwi
Targeted Allele Detail

Summary

• Symbol: Gjc2^tm2.1Kwi
• Name: gap junction protein, gamma 2; targeted mutation 2.1, Klaus Willecke
• MGI ID: MGI:5140116
• Synonyms: Cx47^M282T
• Gene: Gjc2 Location: Chr11:59066394-59074039 bp, - strand Genetic Position: Chr11, 37.05 cM
• Alliance: Gjc2^tm2.1Kwi page

Toluidine blue/pyronin g stained semi-thin sections reveal cystic spaces in white matter of Gjc2^tm2.1Kwi/Gjc2^tm2.1Kwi mice

Show the 4 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:174197
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

Allele Type: Targeted Mutations: Insertion, Single point mutation Mutation details: The coding region was replaced with a mutated version with a T to C exchange at nucleotide 845 (coding for a methionine to threonine transition at codon 282), and an IRES, lacZ gene with a nuclear localization signal and FRT flanked neo cassette were inserted via homologous recombination. Flp mediated recombination removed the neo cassette. LacZ expression coincides with endogenous gene expression. Homozygous and heterozygous mice show a reduction in GJC2 positive puncta in the brain and the mutant protein lacks the typical gap junctional immunosignals at oligodendrocytic somata. (J:174197)

Generation of the Gjc2^tm2.1Kwi allele

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Gjc2 Mutation: 21 strains or lines available

References

• Original: J:174197 Tress O, et al., Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes pelizaeus-merzbacher-like disease in humans. PLoS Genet. 2011 Jul;7(7):e1002146
• All: 1 reference(s)