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Phenotypes Associated with This Genotype
Genotype
MGI:3590207
Allelic
Composition
Col2a1tm1Prc/Col2a1tm1Prc
Genetic
Background
involves: 129/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1tm1Prc mutation (0 available); any Col2a1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• shorter trunk (J:84739)
• shorter trunk (J:84739)
• thorax is narrowed (J:84739)
• thorax is narrowed (J:84739)

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

embryogenesis
• shorter trunk (J:84739)
• shorter trunk (J:84739)
• the rod-like notochord remains unchanged in late development (J:84739)
• the rod-like notochord remains unchanged in late development (J:84739)

craniofacial
• facial bones are shortened (J:117910)
• facial bones are shortened (J:117910)
• chondrocranium is shortened leading to a dome shaped skull (J:117910)
• however, membranous bones in the head develop normally (J:117910)
• chondrocranium is shortened leading to a dome shaped skull (J:117910)
• however, membranous bones in the head develop normally (J:117910)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory