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| Nomenclature |
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Symbol:
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Gja1tm8Kwi
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Name:
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gap junction protein, alpha 1;
targeted mutation 8, Klaus Willecke
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MGI ID: |
MGI:3776013 |
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Synonyms: |
Cx43floxG138R, Gja1flox(G138R) |
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Gene:
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Gja1
Location:
Chr10:56377300-56390419 bp, + strand
Genetic Position: Chr10,
28.64 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:132032
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Parent Cell Line:
| HM-1 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd-Hprtb-m3
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Mutation
description |
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Allele
Type: | |
Targeted (Floxed/Frt) |
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Mutations: | |
Insertion, Nucleotide substitutions, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
