Phenotypes associated with this allele

• Allele Symbol: Gja1^tm3Gfi
• Allele Name: targeted mutation 1, Glenn I Fishman
• Allele ID: MGI:3774163
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gja1^tm3Gfi/Gja1^tm3Gfi	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3808025
ht2	Gja1^tm3Gfi/Gja1^+	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3808026

Genotype
MGI:3808025

hm1

• Allelic Composition: Gja1^tm3Gfi/Gja1^tm3Gfi
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

preweaning lethality, complete penetrance ( J:130575 )

• no homozygous offspring are produced by heterozygous x heterozygous breeding

Genotype
MGI:3808026

ht2

• Allelic Composition: Gja1^tm3Gfi/Gja1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:130575 )

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

cardiovascular system

cardiovascular system phenotype ( J:130575 )

N • adult hearts do not show morphological abnormalities such as right ventricular outflow obstruction, atrial septal defect, or patent foramen ovale

N • left ventricle structure and contractile function show no significant differences from littermate controls

ventricular tachycardia ( J:130575 )

• all mutants studied display inducible or spontaneous ventricular tachycardia (VT) compared to no wild-type hearts

abnormal impulse conducting system conduction ( J:130575 )

• conduction velocity in both longitudinal (CV_max) and transverse directions (CV_min) is significantly reduced compared to littermate controls

abnormal heart electrocardiography waveform feature ( J:130575 )

• ratio of R wave/P wave amplitude is significantly reduced

decreased QRS amplitude ( J:130575 )

• amplitude is diminished

abnormal myocardial fiber physiology ( J:130575 )

limbs/digits/tail

syndactyly ( J:130575 )

• >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