Gja1<tm8Kwi> Targeted Allele Detail MGI Mouse (MGI:3776013)

Gja1^tm8Kwi
Targeted Allele Detail

Summary

Symbol:	Gja1^tm8Kwi
Name:	gap junction protein, alpha 1; targeted mutation 8, Klaus Willecke
MGI ID:	MGI:3776013
Synonyms:	Cx43^floxG138R, Gja1^flox(G138R)
Gene:	Gja1 Location: Chr10:56253297-56266519 bp, + strand Genetic Position: Chr10, 28.64 cM
Alliance:	Gja1^tm8Kwi page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:132032
Parent Cell Line:	HM-1 (ES Cell)
Strain of Origin:	129P2/OlaHsd-Hprt1^b-m3

Mutation
description

Allele Type:		Targeted (Conditional ready, No functional change)
Mutations:		Insertion, Intragenic deletion, Nucleotide substitutions
		Mutation details: The 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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	60 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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