Phenotypes associated with this allele

• Allele Symbol: vsd
• Allele Name: ventricular septal defect
• Allele ID: MGI:3522333
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	vsd/vsd	C57BL/6J-vsd	MGI:3522714
ht2	vsd/vsd^+	C57BL/6J-vsd	MGI:3522715

Genotype
MGI:3522714

hm1

• Allelic Composition: vsd/vsd
• Genetic Background: C57BL/6J-vsd

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

mortality/aging

perinatal lethality, complete penetrance ( J:94456 )

• pups die at birth

cardiovascular system

abnormal coronary vein morphology ( J:94456 )

• enlarged peritruncal coronary veins are found at the base of the outflows

abnormal heart atrium morphology ( J:94456 )

• congested atria are seen

muscular ventricular septal defect ( J:94456 )

• small muscular ventricular septal defects are seen

cardiac hypertrophy ( J:94456 )

semilunar valve regurgitation ( J:94456 )

• outflow regurgitation is seen

congestive heart failure ( J:94456 )

growth/size/body

cardiac hypertrophy ( J:94456 )

embryonic growth retardation ( J:94456 )

limbs/digits/tail

forelimb oligodactyly ( J:94456 )

• mutants have only 3 digits on the front paws and in some cases the third digit is bifurcated

clubfoot ( J:94456 )

abnormal forelimb morphology ( J:94456 )

• the forelimbs are abnormally flexed towards the chest

embryo

embryonic growth retardation ( J:94456 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
clubfoot		DOID:11836	OMIM:119800	J:94456
Holt-Oram syndrome		DOID:0060468	OMIM:142900	J:94456

Genotype
MGI:3522715

ht2

• Allelic Composition: vsd/vsd⁺
• Genetic Background: C57BL/6J-vsd

cardiovascular system

abnormal heart morphology ( J:94456 )

• some heterozygotes have cardiac defects similar to homozygotes but do not have obvious forelimb abnormalities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Holt-Oram syndrome		DOID:0060468	OMIM:142900	J:94456