Mouse Genome Informatics
ht
    Col1a1tm1Jcm/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 in Col1a1tm1.1Jcm/Col1a1+ and Col1a1tm1Jcm/Col1a1+ mice

mortality/aging
• F1 heterozygotes die a few hours after birth from respiratory distress

respiratory system
• F1 heterozygotes die a few hours after birth from respiratory distress

skeleton
• decrease in calvarial mineralization
• exhibit multiple rib fractures
• short vertebral bodies

craniofacial
• decrease in calvarial mineralization

Mouse Models of Human Disease
OMIM IDRef(s)
Osteogenesis Imperfecta, Type II 166210 J:59168