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Targeted Allele Detail
Symbol: Gjc2tm2.1Kwi
Name: gap junction protein, gamma 2; targeted mutation 2.1, Klaus Willecke
MGI ID: MGI:5140116
Synonyms: Cx47M282T
Gene: Gjc2  Location: Chr11:59175568-59183213 bp, - strand  Genetic Position: Chr11, 37.05 cM
Germline Transmission:  Earliest citation of germline transmission: J:174197
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
Mutation detailsThe 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  3 strains or lines available
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.0
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