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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Glyr1em1Dsr
endonuclease-mediated mutation 1, Deepak Srivastava
MGI:7279292
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Glyr1em1Dsr/Glyr1em1Dsr involves: C57BL/6J MGI:7279300
cn2
 		Gata4tm1.1Sad/Gata4+
Glyr1em1Dsr/Glyr1+
Tg(Tek-cre)1Ywa/0 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL MGI:7279301


Genotype
MGI:7279300
hm1
Allelic
Composition		 Glyr1em1Dsr/Glyr1em1Dsr
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Glyr1em1Dsr mutation (0 available); any Glyr1 mutation (30 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, incomplete penetrance ( J:322763 )
• 54% newborns die by age P1

cardiovascular system
ventricular septal defect ( J:322763 )
• VSD in 15% of newborns

embryo
embryo phenotype ( J:322763 )
N
• born at normal Mendelian ratios

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
atrioventricular septal defect DOID:0050651 OMIM:606215
OMIM:614430
OMIM:614474
 J:322763




Genotype
MGI:7279301
cn2
Allelic
Composition		 Gata4tm1.1Sad/Gata4+
Glyr1em1Dsr/Glyr1+
Tg(Tek-cre)1Ywa/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4tm1.1Sad mutation (1 available); any Gata4 mutation (36 available)
Glyr1em1Dsr mutation (0 available); any Glyr1 mutation (30 available)
Tg(Tek-cre)1Ywa mutation (6 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
ventricular septal defect ( J:322763 )
• VSD in all newborns, majority with atrio-ventricular septal defects (AVSDs)

mortality/aging
postnatal lethality, incomplete penetrance ( J:322763 )
• 63% newborns die by age P1

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
atrioventricular septal defect DOID:0050651 OMIM:606215
OMIM:614430
OMIM:614474
 J:322763




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
11/12/2024
MGI 6.24 		The Jackson Laboratory