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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Nr1d2tm1Dgen
targeted mutation 1, Deltagen
MGI:5427681
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Nr1d2tm1Dgen/Nr1d2tm1Dgen B6;129P2-Nr1d2tm1Dgen/H MGI:5804180
hm2
 		Nr1d2tm1Dgen/Nr1d2tm1Dgen involves: 129P2/OlaHsd * C57BL/6J MGI:5427841
ht3
 		Nr1d2tm1Dgen/Nr1d2+ B6;129P2-Nr1d2tm1Dgen/H MGI:5804182


Genotype
MGI:5804180
hm1
Allelic
Composition		 Nr1d2tm1Dgen/Nr1d2tm1Dgen
Genetic
Background		 B6;129P2-Nr1d2tm1Dgen/H
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr1d2tm1Dgen mutation (2 available); any Nr1d2 mutation (25 available)
♀ 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		 Nr1d2tm1Dgen/Nr1d2tm1Dgen
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr1d2tm1Dgen mutation (2 available); any Nr1d2 mutation (25 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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		 Nr1d2tm1Dgen/Nr1d2+
Genetic
Background		 B6;129P2-Nr1d2tm1Dgen/H
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr1d2tm1Dgen mutation (2 available); any Nr1d2 mutation (25 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, incomplete penetrance ( J:232480 )
• 1 of 7 heterozygotes died spontaneously at P0, within hours after birth




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory