Mouse Genome Informatics
hm
    Matn3tm1Mbri/Matn3tm1Mbri
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
• authors state that the decreased length of the tibia inner cantal distance is representative of all bones measured (humerus, pelvis, femur and tibia)
• at day 14 tibias are 8.5% shorted and at day 21 tibias are 12.5% shorter than in wild-type mice
• the collagen network in the growth plate, especially in the pre-hypertrophic zone, is more uniform and visible than in wild-type mice
• chondrocyte proliferation in the growth plate is reduced 16% compared to in wild-type mice
• chondrocytes in the resting zone and growth plate contain dilated rough endoplasmic reticulum (rER) cisternae, due to the accumulation of the mutant protein, that gradually become larger disrupting the alignment of chondrocytes
• at day 7, the proliferative zone becomes progressively dysplastic with disordered cellular organization and morphology
• the hypertrophic zone exhibits dysplasia
• chondrocyte apoptosis in the hypertrophic zone is expanded beyond just the terminal hypertrophic chondrocytes at the vascular invasion front
• chondrocytes in the resting zone and growth plate contain dilated rough endoplasmic reticulum (rER) cisternae, due to the accumulation of the mutant protein, that gradually become larger disrupting the alignment of chondrocytes
• chondrocyte rER volume is increased 9-fold compared to in wild-type mice
• chondrocyte proliferation in the growth plate is reduced 16% compared to in wild-type mice
• chondrocyte apoptosis in the hypertrophic zone is expanded beyond just the terminal hypertrophic chondrocytes at the vascular invasion front

growth/size
• at day 42 mice are 7.5% lighter and at day 63 they are 9.5% lighter than wild-type mice
• by day 14 mice develop short-limbed dwarfism

limbs/digits/tail
• at day 14 tibias are 8.5% shorted and at day 21 tibias are 12.5% shorter than in wild-type mice
• by day 14 mice develop short-limbed dwarfism

Mouse Models of Human Disease
OMIM IDRef(s)
Epiphyseal Dysplasia, Multiple, 5; EDM5 607078 J:125104