Phenotypes associated with this allele

• Allele Symbol: Nr1d2^tm1Dgen
• Allele Name: targeted mutation 1, Deltagen
• Allele ID: MGI:5427681
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nr1d2^tm1Dgen/Nr1d2^tm1Dgen	B6;129P2-Nr1d2^tm1Dgen/H	MGI:5804180
hm2	Nr1d2^tm1Dgen/Nr1d2^tm1Dgen	involves: 129P2/OlaHsd * C57BL/6J	MGI:5427841
ht3	Nr1d2^tm1Dgen/Nr1d2^+	B6;129P2-Nr1d2^tm1Dgen/H	MGI:5804182

Genotype
MGI:5804180

hm1

• 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

Genotype
MGI:5427841

hm2

• Allelic Composition: Nr1d2^tm1Dgen/Nr1d2^tm1Dgen
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

mortality/aging

preweaning lethality, incomplete penetrance ( J:82809 )

• few homozygous mutant mice were identified at weaning of the N0F2 generation; however, homozygous mutants were identified in the N1F2 generation and thereafter

normal phenotype

no abnormal phenotype detected ( J:82809 )

• there were no significant differences detected in the homozygous or heterozygous mutant mice when compared with age- and gender-matched wild-type control mice

Genotype
MGI:5804182

ht3

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:232480 )

• 1 of 7 heterozygotes died spontaneously at P0, within hours after birth