Mouse Genome Informatics
ht
    Col1a1tm1.1Jcm/Col1a1+
either: (involves: 129X1/SvJ * C3H/HeJ) or (involves: 129X1/SvJ * CD-1)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Skeletal abnormalities and small size of Col1a1tm1.1Jcm/Col1a1+ mice

mortality/aging
• 40-60% of F2 pups die within a few hours after birth from respiratory distress

growth/size
• thorax has a narrow apex and flared base
• size is about 50% that of wild-type until 6 weeks of age, after which size increases to about 80% of normal

respiratory system
• pulmonary hemorrhage is seen in embryos
• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone
• 40-60% of F2 pups die within a few hours after birth from respiratory distress

skeleton
• calvarium is thinner and poorly mineralized
• show disorganized islands of bone formation in the maxilla in the area around the molars
• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone
• exhibit long bone fractures
• ramus of ischium appears to be laterally flared
• multiple rib fractures
• gracile ribs
• deformed and flared rib cage
• vertebral bodies are disorganized, osteoporotic, shorter, and flattened
• general undermineralization of the skeleton, especially of the skull

limbs/digits/tail
• fore and hind legs are bowed and thinner than wild-type

cardiovascular system
• pulmonary hemorrhage is seen in embryos

craniofacial
• calvarium is thinner and poorly mineralized
• show disorganized islands of bone formation in the maxilla in the area around the molars
• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone
• pulp cavity of molars appears necrotic and infected with bacteria

Mouse Models of Human Disease
OMIM IDRef(s)
Osteogenesis Imperfecta, Type I 166200 J:59168