Phenotypes Associated with This Genotype

Genotype
MGI:3590207

• Allelic Composition: Col2a1^tm1Prc/Col2a1^tm1Prc
• Genetic Background: involves: 129

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

growth/size/body

short nasal bone ( J:117910 )

decreased embryo size ( J:84739 )

• shorter trunk

abnormal chest morphology ( J:84739 , J:117910 )

• thorax is narrowed (J:84739)

decreased body length ( J:117910 )

disproportionate dwarf ( J:84739 , J:117910 )

skeleton

short facial bone ( J:117910 )

• facial bones are shortened

short mandible ( J:117910 )

short nasal bone ( J:117910 )

domed cranium ( J:117910 )

• chondrocranium is shortened leading to a dome shaped skull

• however, membranous bones in the head develop normally

abnormal long bone morphology ( J:117910 )

abnormal long bone metaphysis morphology ( J:84739 , J:117910 )

• greatly shortened (J:84739)

decreased length of long bones ( J:84739 , J:117910 )

• shorter long bones (J:84739)

abnormal rib morphology ( J:84739 , J:117910 )

• size and shape of ribs are abnormal (J:84739)

abnormal vertebral body morphology ( J:117910 )

• vertebral body cartilage is structurally disorganized and lacks ossification centers

enlarged vertebral body ( J:84739 , J:117910 )

• vertebral bodies are increased in size and have an abnormal shape (J:84739)

abnormal trabecular bone morphology ( J:117910 )

• trabecular bones are oriented transversely instead of perpendicular to the direction of longitudinal growth

abnormal cartilage morphology ( J:117910 )

• weak cartilage

• lacunar organization within cartilage is missing

• proteoglycan content is decreased throughout cartilage

absent intervertebral disk ( J:84739 , J:117910 )

abnormal articular cartilage morphology ( J:117910 )

• the forming articular surface of cartilage is irregular and covered with several fibrous-like cell layers

abnormal skeleton development ( J:84739 )

abnormal long bone epiphyseal plate morphology ( J:117910 )

• cartilage lacks growth plates although cells resembling hypertrophic chondrocytes are seen adjacent to the ossification zone

abnormal long bone hypertrophic chondrocyte zone ( J:84739 , J:117910 )

• matrix in the hypertrophic-like zone is poorly mineralized (J:117910)

disorganized long bone epiphyseal plate ( J:84739 )

• growth plates are disorganized

increased long bone epiphyseal plate size ( J:84739 )

• epiphyseal cartilages of femur and tibia are enlarged and frequently contain holes

abnormal long bone epiphysis morphology ( J:117910 )

• epiphyseal cartilages of femur and tibia are enlarged and frequently contain holes

abnormal cartilage development ( J:84739 )

• completely lack a well-organized collagen fibrillar network in all zones of cartilage

chondrodystrophy ( J:84739 )

abnormal endochondral bone ossification ( J:84739 , J:117910 )

• all bones formed by endochondral bone ossification are malformed (J:84739)

embryo

decreased embryo size ( J:84739 )

• shorter trunk

persistence of notochord tissue ( J:84739 )

• the rod-like notochord remains unchanged in late development

craniofacial

short facial bone ( J:117910 )

• facial bones are shortened

short mandible ( J:117910 )

short nasal bone ( J:117910 )

domed cranium ( J:117910 )

• chondrocranium is shortened leading to a dome shaped skull

• however, membranous bones in the head develop normally

respiratory system

short nasal bone ( J:117910 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondrogenesis type II		DOID:0080056	OMIM:200610	J:117910