Mouse Genome Informatics
tg
    Tg(Col2a1-PTHR1*H223R)BHju/Tg(Col2a1-PTHR1*H223R)BHju
involves: FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

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

limbs/digits/tail
• short and deformed hindlimbs
• shorter and thicker

skeleton
• 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 IDRef(s)
Metaphyseal Chondrodysplasia, Jansen Type 156400 J:77639