Phenotypes Associated with This Genotype

Genotype
MGI:6259994

• Allelic Composition: Col10a1^tm2.1Rpbh/Col10a1⁺
• Genetic Background: involves: C57BL/6NTac

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

growth/size/body

decreased body weight ( J:267200 )

disproportionate dwarf ( J:267200 )

• mice exhibit short limb dwarfism

postnatal growth retardation ( J:267200 )

• mice grow slower from birth

skeleton

increased width of hypertrophic chondrocyte zone ( J:267200 )

• the hypertrophic zone of tibial growth plates are expanded by 3.5-fold in 3 week old mice

• expansion of the hypertrophic zone is present at birth and is still apparent at 7 weeks of age

• carbamazepine treated mice show a reduction in the expanded hypertrophic zone width

abnormal pelvic girdle bone morphology ( J:267200 )

• the angle of deflection of the ischial tuberosity is increased about 2-fold at 3 weeks of age, indicating hip dysplasia

• mice treated with carbamazepine for 1 week show a reduction in the ischial tuberosity angle of deflection and normal hip geometry after 2 weeks of treatment

abnormal chondrocyte differentiation ( J:267200 )

• growth plates show disrupted hypertrophic chondrocyte differentiation, with recruitment of osteoclasts to the vascular invasion front and the height achieved by the terminal hypertrophic chondrocytes being reduced

• carbamazepine treatment improves hypertrophic chondrocyte differentiation in the growth plate

abnormal endochondral bone ossification ( J:267200 )

• mice exhibit a decrease in endochondral bone growth rate

• mice treated with carbamazepine show increased femur and tibia growth

cellular

increased endoplasmic reticulum stress ( J:267200 )

• marker analysis indicates increased ER stress in the growth plate

• carbamazepine treated mice show reduced ER stress in the growth plate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Schmid metaphyseal chondrodysplasia		DOID:0080021	OMIM:156500	J:267200