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Gja1tm8Kwi
Targeted Allele Detail
Nomenclature
Symbol: Gja1tm8Kwi
Name: gap junction protein, alpha 1; targeted mutation 8, Klaus Willecke
MGI ID: MGI:3776013
Synonyms: Cx43floxG138R, Gja1flox(G138R)
Gene: Gja1  Location: Chr10:56377300-56390419 bp, + strand  Genetic Position: Chr10, 28.64 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:132032
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprtb-m3
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutations:    Insertion, Intragenic deletion, Nucleotide substitutions
 
Mutation detailsThe endogenous locus was replaced with a cassette that contained a 5' loxP site, a copy of the endogenous locus, an frt-flanked neo cassette with a 3' loxP site, an open reading frame with an amino acid substitution that resulted in an amino acid substitution of arginine for glycine at position 138 (G138R) and an IRES-eGFP. Only cre-mediated recombinaton can remove the wild-type locus and result in expression of the locus with the nucleotide substitution. (J:132032)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 12 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 Gja1 Mutation:  35 strains or lines available
References
Original:  J:132032 Dobrowolski R, et al., The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. Hum Mol Genet. 2008 Feb 15;17(4):539-54
All:  6 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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last database update
10/15/2019
MGI 6.14
The Jackson Laboratory