Phenotypes associated with this allele

• Allele Symbol: Col10a1^tm2.1Rpbh
• Allele Name: targeted mutation 2.1, Raymond P Boot-Handford
• Allele ID: MGI:6259993
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col10a1^tm2.1Rpbh/Col10a1^tm2.1Rpbh	involves: C57BL/6NTac	MGI:6259995
ht2	Col10a1^tm2.1Rpbh/Col10a1^+	involves: C57BL/6NTac	MGI:6259994

Genotype
MGI:6259995

hm1

• 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 )

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

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

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

Genotype
MGI:6259994

ht2

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

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