Phenotypes Associated with This Genotype

Genotype
MGI:5007718

• Allelic Composition: Col2a1^Rgsc856/Col2a1^Rgsc856
• Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

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

Skeletal abnormalities in Col2a1^Rgsc856/Col2a1⁺ and Col2a1^Rgsc856/Col2a1^Rgsc856 mice at E18.5

mortality/aging

perinatal lethality, complete penetrance ( J:171906 )

• die at birth

skeleton

abnormal skeleton morphology ( J:171906 )

• severe skeletal dysplasia

abnormal pelvic girdle bone morphology ( J:171906 )

• severe pelvic hypoplasia

abnormal vertebrae morphology ( J:171906 )

• severe spondylar dysplasia

platyspondylia ( J:171906 )

abnormal chondrocyte morphology ( J:171906 )

• in the resting and proliferating zones chondrocytes have a spindle like shape

• in proliferating chondrocytes the rough ER is expanded

abnormal epiphyseal plate morphology ( J:171906 )

• total length of the growth plate is drastically reduced but the diameter is increased

• columnar alignment of proliferating chondrocytes is completely lost but hypertrophic chondrocytes are present

• drastic decrease in extracellular matrix in the proliferating zone

abnormal long bone epiphyseal plate proliferative zone ( J:171906 )

• at E18.5 in the proliferating zone of the femur, collagen fibers are markedly reduced and proteoglycan aggregates are reduced and irregular in size

• at E19.5 in the proliferating zone of the femur, type II collagen is barely detectable in the extracellular space and instead is mainly detected in the intracellular space, unlike in wild-type mice

abnormal chondrocyte physiology ( J:171906 )

• expression analysis indicates an increase in ER stress in rib cartilage at E18.5

growth/size/body

short snout ( J:171906 )

decreased fetal size ( J:171906 )

• severe dwarfism

craniofacial

short snout ( J:171906 )

limbs/digits/tail

brachydactyly ( J:171906 )

short limbs ( J:171906 )

• extremely shortened limbs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondyloepimetaphyseal dysplasia		DOID:0080027		J:171906