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| Nomenclature |
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Symbol:
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Gja1tm3Gfi
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Name:
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gap junction protein, alpha 1;
targeted mutation 1, Glenn I Fishman
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MGI ID: |
MGI:3774163 |
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Synonyms: |
Cx43I130T |
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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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Syndactyly and normal heart morphology in Gja1tm3Gfi/Gja1+ mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:130575
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Nucleotide substitutions |
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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)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Gja1 Mutation:
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34 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
