Mouse Genome Informatics
tg
    Tg(Col2a1*R789C)#Waho/0
involves: C57BL/6 * DBA/2
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• die soon after birth from respiratory distress

skeleton
• shortened limb bones
• reduction of collagen fibrils in cartilage matrix
• perichondrium is thicker
• cellular organization of the cartilage growth plate is disturbed, with fewer stacks of flattened chondrocytes in the proliferative zone
• mutants exhibit fewer stacks of flattened chondrocytes in the proliferative zone
• mineralization of primary and secondary ossification centers is delayed

growth/size/body
• small thorax
• short trunk
• mutants are severely dwarfed

digestive/alimentary system

limbs/digits/tail
• shortened limb bones

craniofacial

reproductive system
• small litter size, from 2-6 pups

respiratory system

Mouse Models of Human Disease
OMIM IDRef(s)
Spondyloepiphyseal Dysplasia Congenita; SEDC 183900 J:112540