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Targeted Allele Detail
Symbol: Gja1tm3Gfi
Name: gap junction protein, alpha 1; targeted mutation 1, Glenn I Fishman
MGI ID: MGI:3774163
Synonyms: Cx43I130T
Gene: Gja1  Location: Chr10:56377300-56390419 bp, + strand  Genetic Position: Chr10, 28.64 cM
Syndactyly and normal heart morphology in Gja1tm3Gfi/Gja1+ mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:130575
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
Mutation detailsThe locus was replaced with a neo cassette and an open reading frame containing a nucleotide substitution that resulted in an amino acid substitution of a threonine for an isoleucine at position 130 (I130T). This amino acid substitution is responsible for oculodentodigtal dysplasia in humans. (J:130575)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Gja1 Mutation:  35 strains or lines available
Original:  J:130575 Kalcheva N, et al., Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. Proc Natl Acad Sci U S A. 2007 Dec 18;104(51):20512-6
All:  3 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
MGI 6.14
The Jackson Laboratory