Phenotypes associated with this allele

• Allele Symbol: Gja1^tm1.1Gfi
• Allele Name: targeted mutation 1.1, Glenn I Fishman
• Allele ID: MGI:3652926
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gja1^tm1.1Gfi/Gja1^tm1.1Gfi	Not Specified	MGI:3652971
ht2	Gja1^tm1.1Gfi/Gja1^+	Not Specified	MGI:3652978
cn3	Gja1^tm1Gfi/Gja1^tm1.1Gfi Tg(Pax3-cre)1Joe/0	involves: 129/Sv * C57BL/6 * FVB/N * SJL	MGI:3652963

Genotype
MGI:3652971

hm1

• Allelic Composition: Gja1^tm1.1Gfi/Gja1^tm1.1Gfi
• Genetic Background: Not Specified

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

mortality/aging

perinatal lethality ( J:108525 )

cardiovascular system

abnormal trabecula carnea morphology ( J:108525 )

• exhibit exaggerated right ventricular trabeculation

abnormal cardiac outflow tract development ( J:108525 )

• exhibit misshapen right ventricle outflow tracts with large infundibular bulges

• outflow tracts appear dilated and more densely trabeculated

abnormal heart right ventricle outflow tract morphology ( J:108525 )

• large infundibular bulges; the infundibular myocardium begins to bulge above the plane of the pulmonic valve at E15.5

• regions of the infundibular wall show thinning

decreased heart right ventricle wall thickness ( J:108525 )

• the right ventricular wall is slightly thinner

nervous system

abnormal nervous system development ( J:108525 )

• exhibit a late phase of cellular delamination from the dorsal and lateral neural tube

muscle

abnormal trabecula carnea morphology ( J:108525 )

• exhibit exaggerated right ventricular trabeculation

Genotype
MGI:3652978

ht2

• Allelic Composition: Gja1^tm1.1Gfi/Gja1⁺
• Genetic Background: Not Specified

cardiovascular system

abnormal coronary artery morphology ( J:108525 )

• 2 of 5 mutants exhibit myocardial and septal coronary arteries originating from the same ostium on the aorta, rather than branching from a main coronary artery

Genotype
MGI:3652963

cn3

• Allelic Composition: Gja1^tm1Gfi/Gja1^tm1.1Gfi; Tg(Pax3-cre)1Joe/0
• Genetic Background: involves: 129/Sv * C57BL/6 * FVB/N * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:108525 )

• partial postnatal lethality, as only 4.6% of pups at 2 weeks of age are mutants

growth/size/body

decreased birth body size ( J:108525 )

• smaller at birth

decreased birth weight ( J:108525 )

• neonatal weights are decreased by 11.6%

cardiovascular system

abnormal coronary artery morphology ( J:108525 )

• 3 of 5 neonates exhibit a variety of coronary abnormalities

abnormal trabecula carnea morphology ( J:108525 )

• the right ventricle appears more heavily trabeculated at E15.5

abnormal heart development ( J:108525 )

• exhibit a late phase of cellular delamination from the dorsal and lateral neural tube, a markedly increased abundance of neuroepithelium-derived cells outside of the neural tube and an excess of such cells infiltrating the heart and infundibulum

abnormal heart right ventricle outflow tract morphology ( J:108525 )

• neonates exhibit grossly misshapen right ventricle outflow tract (RVOT), with large infundibular bulges seen bilaterally flanking the outflow tract

• RVOT is first observed at E15.5, with the right ventricle appearing more heavily trabeculated

• outflow tracts appear dilated and more densly trabeculated

• regions of the infundibular wall showing thinning

decreased heart right ventricle wall thickness ( J:108525 )

• the right ventricular wall is slightly thinner

nervous system

abnormal nervous system development ( J:108525 )

• exhibit a late phase of cellular delamination from the dorsal and lateral neural tube, a markedly increased abundance of neuroepithelium-derived cells outside of the neural tube and an excess of such cells infiltrating the heart and infundibulum

muscle

abnormal trabecula carnea morphology ( J:108525 )

• the right ventricle appears more heavily trabeculated at E15.5