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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ezh2em1Jbn
endonuclease-mediated mutation 1, Jeffrey Baron
MGI:6259828
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Ezh2em1Jbn/Ezh2em1Jbn C57BL/6J-Ezh2em1Jbn MGI:6275997
ht2
 		Ezh2em1Jbn/Ezh2+ C57BL/6J-Ezh2em1Jbn MGI:6275998


Genotype
MGI:6275997
hm1
Allelic
Composition		 Ezh2em1Jbn/Ezh2em1Jbn
Genetic
Background		 C57BL/6J-Ezh2em1Jbn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ezh2em1Jbn mutation (1 available); any Ezh2 mutation (72 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality, complete penetrance ( J:267184 )
• pups are born dead or die shortly after birth

growth/size/body
decreased embryo size ( J:267184 )
• E18.5 embryos exhibit a decreased body size

embryo
decreased embryo size ( J:267184 )
• E18.5 embryos exhibit a decreased body size

respiratory system
primary atelectasis ( J:267184 )
• diffuse atelectasis at birth

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Weaver syndrome DOID:14731 OMIM:277590
 J:267184




Genotype
MGI:6275998
ht2
Allelic
Composition		 Ezh2em1Jbn/Ezh2+
Genetic
Background		 C57BL/6J-Ezh2em1Jbn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ezh2em1Jbn mutation (1 available); any Ezh2 mutation (72 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
increased heart weight ( J:267184 )
• increased heart weight at 8 weeks of age

growth/size/body
increased heart weight ( J:267184 )
• increased heart weight at 8 weeks of age
increased body weight ( J:267184 )
• by 8 weeks of age, body weight is increased in comparison to controls
• increase is more prominent in females
increased growth rate ( J:267184 )
• is observed by 8 weeks of age
increased kidney weight ( J:267184 )
• increased kidney weight at 8 weeks of age
increased spleen weight ( J:267184 )
• increased spleen weight at 8 weeks of age

hematopoietic system
increased spleen weight ( J:267184 )
• increased spleen weight at 8 weeks of age

immune system
increased spleen weight ( J:267184 )
• increased spleen weight at 8 weeks of age

renal/urinary system
increased kidney weight ( J:267184 )
• increased kidney weight at 8 weeks of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Weaver syndrome DOID:14731 OMIM:277590
 J:267184




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
10/09/2024
MGI 6.24 		The Jackson Laboratory