Phenotypes associated with this allele

• Allele Symbol: Col10a1⁺
• Allele Name: wild type
• Allele ID: MGI:2430155
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Col10a1^tm1.1Rpbh/Col10a1^+	involves: 129 * C57BL/6	MGI:4397576
ht2	Col10a1^tm2.1Rpbh/Col10a1^+	involves: C57BL/6NTac	MGI:6259994
cn3	Col10a1^tm1(cre)Haak/Col10a1^+ Tg(CAG-mRFP1,-SOX9,-EGFP)1Haak/0	involves: 129S6/SvEvTac * C57BL/6	MGI:5297173

Genotype
MGI:4397576

ht1

• Allelic Composition: Col10a1^tm1.1Rpbh/Col10a1⁺
• Genetic Background: involves: 129 * C57BL/6

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

Growth plate hypertrophic zone expansion in Col10a1^tm1.1Rpbh/Col10a1⁺ and Col10a1^tm1.1Rpbh/Col10a1^tm1.1Rpbh mice

limbs/digits/tail

short femur ( J:154052 )

• shorter femurs than wild type at 2 and 3 weeks of age

skeleton

short femur ( J:154052 )

• shorter femurs than wild type at 2 and 3 weeks of age

increased width of hypertrophic chondrocyte zone ( J:154052 )

• expanded hypertrophic zones of the growth plates in tibia, femur and ribs at 3 weeks of age

• expanded hypertrophic zones of the growth plates is resolved by 7 weeks of age

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

Genotype
MGI:5297173

cn3

• Allelic Composition: Col10a1^tm1(cre)Haak/Col10a1⁺; Tg(CAG-mRFP1,-SOX9,-EGFP)1Haak/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

skeleton

abnormal bone mineralization ( J:176952 )

• mineralization eventually occurs, but mineralized domain is markedly reduced compared to controls

abnormal endochondral bone ossification ( J:176952 )

• endochondral bone formation is impaired

abnormal chondrocyte physiology ( J:176952 )

• terminal differentiation of hypertrophic chondrocytes is delayed as is subsequent cartilage replacement by bone