Mouse Genome Informatics
hm
    Comptm1Mbri/Comptm1Mbri
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
skeleton
• by 16 months, mice develop degenerative joint disease with loss of cartilage from the articular surface
• by 9 weeks male mice tibia are 4% shorter than in wild-type mice
• chondrocytes alignment in the proliferative zone is disrupted from 2 weeks of age
• chondrocyte columns are reduced in number and in some cases terminate prematurely with a corresponding increase in the amount of space between individual columns
• at 3 weeks, proliferative zones are enlarged by greater than 15%
• chondrocytes within the proliferative zone are disorganized, irregularly shaped, heterogeneous and not aligned within the chondrons
• fibrillar material in the interterritorial matrix is more abundant and better defined than in heterozygotes and wild-type mice
• mice exhibit hip dysplasia characterized by the tuberosity of the ischium protruding from the pelvic region at an angle of greater than 15 degrees
• chondrocytes exhibit a mild rough endoplasmic reticulum stress as determined by expression and activity levels of Hspa5, Eif2s1, Ddit3, Atf6, Casp12, and Bcl2
• proliferation of chondrocyte in the proliferative zone is decreased as indicated by a 24% reduction in bromodeoxyuridine-labelled chondrocytes relative to in wild-type mice
• the apoptosis rates for chondrocytes in the growth plate, proliferative zone and resting zone are increased by 3.3-fold, 12-fold and 2.5-fold, respectively, relative to apoptosis rates in wild-type mice
• mice exhibit hip dysplasia characterized by the tuberosity of the ischium protruding from the pelvic region at an angle of greater than 15 degrees

growth/size
• by 9 weeks male mice are 6% lighter than wild-type mice and female mice are likewise lighter than wild-type mice
• by 9 weeks mice develop short limb dwarfism

immune system
• by 16 months, mice develop degenerative joint disease with loss of cartilage from the articular surface

limbs/digits/tail
• by 9 weeks male mice tibia are 4% shorter than in wild-type mice
• by 9 weeks mice develop short limb dwarfism

Mouse Models of Human Disease
OMIM IDRef(s)
Pseudoachondroplasia; PSACH 177170 J:125086