Phenotypes associated with this allele

• Allele Symbol: Ezh2^em1Jiaf
• Allele Name: endonuclease-mediated mutation 1, Jill A Fahrner
• Allele ID: MGI:7610894
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ezh2^em1Jiaf/Ezh2^em1Jiaf	C57BL/6J-Ezh2^em1Jiaf	MGI:7611832
ht2	Ezh2^em1Jiaf/Ezh2^+	C57BL/6J-Ezh2^em1Jiaf	MGI:7611833

Genotype
MGI:7611832

hm1

• Allelic Composition: Ezh2^em1Jiaf/Ezh2^em1Jiaf
• Genetic Background: C57BL/6J-Ezh2^em1Jiaf

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:345603 )

• embryos viable up to stage E14.5

Genotype
MGI:7611833

ht2

• Allelic Composition: Ezh2^em1Jiaf/Ezh2⁺
• Genetic Background: C57BL/6J-Ezh2^em1Jiaf

skeleton

skeleton phenotype ( J:345603 )

N • normal tibia and femur lengths at age 8 weeks

N • normal trabecular bone structure in distal femur

abnormal osteoblast physiology ( J:345603 )

• increased periosteal and endosteal mineral apposition rate (MAR) in females

• increased endosteal mineral apposition rate (MAR) in males

increased femur compact bone thickness ( J:345603 )

♀ • at femoral middiaphysis

increased internal diameter of femur ( J:345603 )

• increased tissue diameter at femoral middiaphysis, leading to reduced bone/tissue ratio

growth/size/body

growth/size/body region phenotype ( J:345603 )

N • normal body length in males and females

N • normal body weight in males

increased body weight ( J:345603 )

♀ • at ages 8-22 weeks

♀ • normal body weight in males

limbs/digits/tail

increased femur compact bone thickness ( J:345603 )

♀ • at femoral middiaphysis

increased internal diameter of femur ( J:345603 )

• increased tissue diameter at femoral middiaphysis, leading to reduced bone/tissue ratio

mortality/aging

mortality/aging ( J:345603 )

N • mice born at expected Mendelian ratios

cellular

abnormal osteoblast physiology ( J:345603 )

• increased periosteal and endosteal mineral apposition rate (MAR) in females

• increased endosteal mineral apposition rate (MAR) in males

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Weaver syndrome		DOID:14731	OMIM:277590	J:345603