Phenotypes Associated with This Genotype

Genotype
MGI:7611833

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

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

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 , J:345603 )

♀ • increased periosteal and endosteal mineral apposition rate (MAR) (J:345603)

♂ • increased endosteal mineral apposition rate (MAR) (J:345603)

increased femur compact bone thickness ( J:345603 )

♀ • at femoral middiaphysis

increased internal diameter of femur ( J:345603 , J:345603 )

♀ • increased tissue diameter at femoral middiaphysis, leading to reduced bone/tissue ratio (J:345603)

♂ • increased tissue diameter at femoral middiaphysis (J:345603)

growth/size/body

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

N • normal body length (J:345603)

♂N • normal body weight (J:345603)

increased body weight ( J:345603 )

♀ • at ages 8-22 weeks

limbs/digits/tail

increased femur compact bone thickness ( J:345603 )

♀ • at femoral middiaphysis

increased internal diameter of femur ( J:345603 , J:345603 )

♀ • increased tissue diameter at femoral middiaphysis, leading to reduced bone/tissue ratio (J:345603)

♂ • increased tissue diameter at femoral middiaphysis (J:345603)

mortality/aging

mortality/aging ( J:345603 )

N • mice born at expected Mendelian ratios

cellular

abnormal osteoblast physiology ( J:345603 , J:345603 )

♀ • increased periosteal and endosteal mineral apposition rate (MAR) (J:345603)

♂ • increased endosteal mineral apposition rate (MAR) (J:345603)

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