Gja1^tm3Gfi
Targeted Allele Detail

Summary

• Symbol: Gja1^tm3Gfi
• Name: gap junction protein, alpha 1; targeted mutation 1, Glenn I Fishman
• MGI ID: MGI:3774163
• Synonyms: Cx43^I130T
• Gene: Gja1 Location: Chr10:56253297-56266519 bp, + strand Genetic Position: Chr10, 28.64 cM
• Alliance: Gja1^tm3Gfi page

Syndactyly and normal heart morphology in Gja1^tm3Gfi/Gja1⁺ mice

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

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted
• Mutation: Nucleotide substitutions
• Mutation details: The 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 59 strains or lines available

References

• 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: 6 reference(s)