Phenotypes associated with this allele

• Allele Symbol: Tg(Col1a1-TGFB1*H222D)#Xca
• Allele Name: transgene insertion, Xu Cao
• Allele ID: MGI:8393387
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
tg1	Tg(Col1a1-TGFB1*H222D)#Xca/0	involves: C57BL/6J	MGI:8393452

Genotype
MGI:8393452

tg1

• Allelic Composition: Tg(Col1a1-TGFB1*H222D)#Xca/0
• Genetic Background: involves: C57BL/6J

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

skeleton

abnormal long bone diaphysis morphology ( J:151616 )

• diaphyseal thickening is initially observed in the lower limbs at 1 month of age

abnormal bone volume ( J:151616 )

• mice show fluctuating bone volume along the length of the tibia

• mice injected with TBetaRI show bone volume more evenly distributed in the tibia

abnormal compact bone morphology ( J:151616 )

• bone porosity, osteoblast surface, and osteoclast surface in cortical bone is increased

increased femur compact bone thickness ( J:151616 )

• cortical thickness is increased about 4-fold compared to wild-type mice

abnormal bone remodeling ( J:151616 )

• bone porosity, osteoblast surface, and osteoclast surface in cortical bone is increased, indicating high bone turnover and abnormal bone remodeling

• osteoclasts and osteoblasts are clustered in separated areas, indicating uncoupled bone resorption and formation

• mice injected with TGF-Beta type I receptor inhibitor (TBetaRI) show bone volume that is more evenly distributed in the tibia and have less cortical thickness, porosity, and osteoblast surface and osteoclast surface, indicating restoration of normal bone remodeling

fragile skeleton ( J:151616 )

• more than 50% of mice have tibial fractures by 3 months of age

• mice injected intraperitoneally with a TGF-Beta type I receptor inhibitor (TBetaRI) every day for 7 weeks show improvements in bone morphology and the distribution of bone mass, with tibial fractures largely prevented

limbs/digits/tail

increased femur compact bone thickness ( J:151616 )

• cortical thickness is increased about 4-fold compared to wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Camurati-Engelmann disease 1		DOID:0061229	OMIM:131300	J:151616