Phenotypes associated with this allele

• Allele Symbol: Chd7^em1Kangn
• Allele Name: endonuclease-mediated mutation 1, Ning Kang
• Allele ID: MGI:7489804
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Chd7^em1Kangn/Chd7^em1Kangn Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0	involves: C57BL/6J * CD-1	MGI:7491815
cn2	Chd7^em1Kangn/Chd7^em1Kangn Tg(Prrx1-cre)1Cjt/0	involves: C57BL/6J * SJL/J	MGI:7491812

Genotype
MGI:7491815

cn1

• Allelic Composition: Chd7^em1Kangn/Chd7^em1Kangn; Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
• Genetic Background: involves: C57BL/6J * CD-1

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

mortality/aging

premature death ( J:336448 )

• relatively lower survival rate

growth/size/body

decreased body size ( J:336448 )

• smaller size and delayed growth features compared to controls

decreased body weight ( J:336448 )

skeleton

increased bone marrow adipose tissue amount ( J:336448 )

• increase in bone marrow adipose tissue accumulation in both primary and secondary ossification centers

• phenotype is more remarkable in the tibia, with considerable marrow adipose tissue in the mesial region and the distal region is mostly occupied by adipose tissue

abnormal compact bone morphology ( J:336448 )

• diminished cortical bone

decreased osteoblast cell number ( J:336448 )

abnormal trabecular bone morphology ( J:336448 )

• diminished trabecular bone

decreased bone mass ( J:336448 )

decreased bone mineralization ( J:336448 )

• slower bone mineral apposition rate at 4 weeks of age

decreased bone ossification ( J:336448 )

• slower bone formation rate

adipose tissue

increased bone marrow adipose tissue amount ( J:336448 )

• increase in bone marrow adipose tissue accumulation in both primary and secondary ossification centers

• phenotype is more remarkable in the tibia, with considerable marrow adipose tissue in the mesial region and the distal region is mostly occupied by adipose tissue

Genotype
MGI:7491812

cn2

• Allelic Composition: Chd7^em1Kangn/Chd7^em1Kangn; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: C57BL/6J * SJL/J

mortality/aging

premature death ( J:336448 )

• relatively lower survival rate

growth/size/body

decreased body size ( J:336448 )

• smaller size and delayed growth features compared to controls at 4 weeks of age

• administration of a PPARG inhibitor partially rescues the reduction in body size

decreased body weight ( J:336448 )

skeleton

increased bone marrow adipose tissue amount ( J:336448 )

• increase in bone marrow adipose tissue accumulation in both primary and secondary ossification centers

• number and density of bone marrow adipocytes are apparently elevated

• accumulation of adipose in the marrow is more striking in females

abnormal craniofacial bone morphology ( J:336448 )

• cranial bone hypoplasia at 2 and 4 weeks of age

decreased long bone epiphyseal plate size ( J:336448 )

• slightly shortened growth plate

decreased bone mineral density ( J:336448 )

• at 4 weeks of age in the femur

decreased volumetric bone mineral density ( J:336448 )

• at 4 weeks of age

abnormal compact bone morphology ( J:336448 )

• treatment with a PPARG inhibitor partially rescues the cortical bone phenotypes

decreased femur compact bone thickness ( J:336448 )

• at 4 weeks of age

decreased osteoblast cell number ( J:336448 )

abnormal trabecular bone morphology ( J:336448 )

• treatment with a PPARG inhibitor partially rescues the trabecular phenotypes

decreased bone trabecula number ( J:336448 )

• at 4 weeks of age

increased bone trabecular spacing ( J:336448 )

• in the femur at 4 weeks of age

decreased trabecular bone thickness ( J:336448 )

• at 4 weeks of age

decreased bone mass ( J:336448 )

decreased bone mineralization ( J:336448 )

• lower degree of mineralization in the cranial and maxillofacial bones at P2

• slower bone mineral apposition rate at 4 weeks of age

decreased bone ossification ( J:336448 )

• slower bone formation rate

hematopoietic system

abnormal bone marrow cell physiology ( J:336448 )

• bone marrow mesenchymal stem cells show reduced osteogenic and increased adipogenic potential in vitro

adipose tissue

increased bone marrow adipose tissue amount ( J:336448 )

• increase in bone marrow adipose tissue accumulation in both primary and secondary ossification centers

• number and density of bone marrow adipocytes are apparently elevated

• accumulation of adipose in the marrow is more striking in females

craniofacial

abnormal craniofacial bone morphology ( J:336448 )

• cranial bone hypoplasia at 2 and 4 weeks of age

limbs/digits/tail

decreased femur compact bone thickness ( J:336448 )

• at 4 weeks of age

short limbs ( J:336448 )

• shorter forelimbs and hindlimbs at P2