Mouse Genome Informatics
hm
    Col2a1tm1Prc/Col2a1tm1Prc
involves: 129/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
growth/size
• shorter trunk
• thorax is narrowed (J:84739)

skeleton
• facial bones are shortened
• chondrocranium is shortened leading to a dome shaped skull
• however, membranous bones in the head develop normally
• greatly shortened (J:84739)
• shorter long bones (J:84739)
• size and shape of ribs are abnormal (J:84739)
• vertebral body cartilage is structurally disorganized and lacks ossification centers
• vertebral bodies are increased in size and have an abnormal shape (J:84739)
• trabecular bones are oriented transversely instead of perpendicular to the direction of longitudinal growth
• weak cartilage
• lacunar organization within cartilage is missing
• proteoglycan content is decreased throughout cartilage
• the forming articular surface of cartilage is irregular and covered with several fibrous-like cell layers
• cartilage lacks growth plates although cells resembling hypertrophic chondrocytes are seen adjacent to the ossification zone
• matrix in the hypertrophic-like zone is poorly mineralized (J:117910)
• growth plates are disorganized
• epiphyseal cartilages of femur and tibia are enlarged and frequently contain holes
• epiphyseal cartilages of femur and tibia are enlarged and frequently contain holes
• completely lack a well-organized collagen fibrillar network in all zones of cartilage
• all bones formed by endochondral bone ossification are malformed (J:84739)

embryogenesis
• shorter trunk
• the rod-like notochord remains unchanged in late development

craniofacial
• facial bones are shortened
• chondrocranium is shortened leading to a dome shaped skull
• however, membranous bones in the head develop normally

Mouse Models of Human Disease
OMIM IDRef(s)
Achondrogenesis, Type II; ACG2 200610 J:117910