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Phenotypes Associated with This Genotype
Genotype
MGI:3808026
Allelic
Composition
Gja1tm3Gfi/Gja1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm3Gfi mutation (0 available); any Gja1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Syndactyly and normal heart morphology in Gja1tm3Gfi/Gja1+ mice

mortality/aging
• from heterozygote x wild-type matings, only 36% of offspring are heterozygous compared to the expected 50%

cardiovascular system
N
• adult hearts do not show morphological abnormalities such as right ventricular outflow obstruction, atrial septal defect, or patent foramen ovale
• left ventricle structure and contractile function show no significant differences from littermate controls
• all mutants studied display inducible or spontaneous ventricular tachycardia (VT) compared to no wild-type hearts
• conduction velocity in both longitudinal (CVmax) and transverse directions (CVmin) is significantly reduced compared to littermate controls
• ratio of R wave/P wave amplitude is significantly reduced
• amplitude is diminished

limbs/digits/tail
• >90% of heterozygotes display hind-limb syndactyly

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
oculodentodigital dysplasia DOID:0060291 OMIM:164200
OMIM:257850
J:130575


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
10/15/2019
MGI 6.14
The Jackson Laboratory