Phenotypes Associated with This Genotype

Genotype
MGI:4397575

• Allelic Composition: Col10a1^tm1.1Rpbh/Col10a1^tm1.1Rpbh
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

Macroscopic analyses of the Metaphyseal Chondrodysplasia Type Schmid phenotype in Col10a1^tm1.1Rpbh/Col10a1^tm1.1Rpbh mice

growth/size/body

slow postnatal weight gain ( J:154052 )

• lower body weight than their littermate control

disproportionate dwarf ( J:154052 )

• short-limbed dwarfism

• shorter endochondral bones than their wild type littermates at 11 week of age

• skull was unaffected

• no overt skeletal phenotype at birth

limbs/digits/tail

short femur ( J:154052 )

• femurs are 21% shorter than wild type from 1 week to 10 weeks of age

• the differences maintained at 1 year of age

• no overt skeletal phenotype at birth

skeleton

decreased osteoclast cell number ( J:154052 )

• fewer osteoclasts localize to the vascular invasion front of the growth plate

short femur ( J:154052 )

• femurs are 21% shorter than wild type from 1 week to 10 weeks of age

• the differences maintained at 1 year of age

• no overt skeletal phenotype at birth

increased width of hypertrophic chondrocyte zone ( J:154052 )

• expanded hypertrophic zones of the growth plates in tibia, femur and ribs

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

• nomal pattern of trabecular bone deposition beneath the expanded growth plates

• normal chondrocyte proliferation rates

abnormal pelvic girdle bone morphology ( J:154052 )

• distorted pelvis shape

• pelvis length is significantly shorter compared to wild type from 1 week of age

cellular

abnormal cell morphology ( J:154052 )

• the secretion of mutant protein is reduced and significantly delayed in the hypertrophic zone

• intracellular retention of the mutant protein apparent in the upper hypertrophic zone

increased endoplasmic reticulum stress ( J:154052 )

• increased endoplasmic reticulum stress in hypertrophic chondrocytes

• induced unfolded protein response

hematopoietic system

decreased osteoclast cell number ( J:154052 )

• fewer osteoclasts localize to the vascular invasion front of the growth plate

immune system

decreased osteoclast cell number ( J:154052 )

• fewer osteoclasts localize to the vascular invasion front of the growth plate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Schmid metaphyseal chondrodysplasia		DOID:0080021	OMIM:156500	J:154052