Mouse Genome Informatics
hm1
    Crtaptm1Brle/Crtaptm1Brle
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• homozygotes display postnatal growth delay
• homozygotes display prenatal growth delay

skeleton
• growth plate shows slightly disorganized columns of proliferating chondrocytes with focal areas of cell drop-out
• shortening of long bone segments (particularly proximal limb segments - rhizomelia) is manifestation of pre- and postnatal growth delays
• mice develop progressive and severe kyphoscoliosis over the first 6 months of age
• mutant bones have decreased bone volume/tissue volume ratio
• mice show decreased trabecular thickness and trabecular number, while trabecular separation is increased
• mice exhibit low bone mass compared to wild-type
• skeleton shows evidence of marked osteoporosis
• bone formation rate (BFR) is reduced due to reduction in mineral apposition rate (MAR)
• mineralization lag time (Mlt) is reduced; osteoid is mineralizing at faster rate than wild-type
• osteoid is markedly reduced in mutants; cells are producing osteoid at slower rate, as indicated by reduced MAR

Mouse Models of Human Disease
OMIM IDRef(s)
Osteogenesis Imperfecta, Type VII; OI7 610682 J:116096