Phenotypes Associated with This Genotype

Genotype
MGI:5804180

• Allelic Composition: Nr1d2^tm1Dgen/Nr1d2^tm1Dgen
• Genetic Background: B6;129P2-Nr1d2^tm1Dgen/H

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:232480 )

• 2 of 8 homozygotes died spontaneously at P0, within hours after birth

cardiovascular system

abnormal heart morphology ( J:232480 )

• in total, 4 of 15 mutant hearts displayed atrioventricular septal defects (AVSDs) and related cardiovascular malformations

common atrioventricular valve ( J:232480 )

• common AV valve in spontaneously deceased P0 pups

ostium primum atrial septal defect ( J:232480 )

• primum ASD in spontaneously deceased P0 pups

atrioventricular septal defect ( J:232480 )

• both spontaneously deceased P0 pups displayed AVSDs

• a single homozygote displayed an AVSD at E16.5

inlet ventricular septal defect ( J:232480 )

• a single homozygote displayed an inlet ventricular septal defect at E17.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atrioventricular septal defect		DOID:0050651	OMIM:606215 OMIM:614430 OMIM:614474	J:232480