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Phenotypes Associated with This Genotype
involves: FVB/N
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phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal images of wild-type and Tg(Col2a1-PTHR1*H223R)BHju/Tg(Col2a1-PTHR1*H223R)BHju mice

• short and deformed hindlimbs
• shorter and thicker

• shorter and thicker
• metaphysis is widened in the hindlimbs
• ossification centers of vertebrae are reduced in size
• chondrocyte hypertrophy and subsequent blood vessel invasion begins at the periphery of the diaphysis and not in the center of the tibia
• at birth, show reduced or absent mineralization of many elements that develop by endochondral bone formation such as the supraoccipital bone, sternum, ischium and pubic bone and have severe mineralization defects of the radius and metatarsal bones
• more pronounced than in Tg(Col2a1-PTHR1*H223R))AHju
• tibiae of newborns consist mainly of proliferative and hypertrophic chondrocytes

Mouse Models of Human Disease
OMIM ID Ref(s)
Metaphyseal Chondrodysplasia, Jansen Type 156400 J:77639

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory