Phenotypes Associated with This Genotype

Genotype
MGI:6259995

• Allelic Composition: Col10a1^tm2.1Rpbh/Col10a1^tm2.1Rpbh
• 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 )

• expansions of the hypertrophic zone are present at birth and are still apparent at 7 weeks of age

• the hypertrophic zone of tibial growth plates are expanded by 5-fold in 3 week old mice

abnormal pelvic girdle bone morphology ( J:267200 )

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

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

abnormal endochondral bone ossification ( J:267200 )

• decrease in endochondral bone growth rate

cellular

increased endoplasmic reticulum stress ( J:267200 )

• marker analysis indicates increased 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