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Phenotypes Associated with This Genotype
Genotype
MGI:4941022
Allelic
Composition
Tg(Col2a1*R789C)#Waho/0
Genetic
Background
involves: C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die soon after birth from respiratory distress (J:112540)
• die soon after birth from respiratory distress (J:112540)

skeleton
• shortened limb bones (J:112540)
• shortened limb bones (J:112540)
• reduction of collagen fibrils in cartilage matrix (J:112540)
• reduction of collagen fibrils in cartilage matrix (J:112540)
• perichondrium is thicker (J:112540)
• perichondrium is thicker (J:112540)
• cellular organization of the cartilage growth plate is disturbed, with fewer stacks of flattened chondrocytes in the proliferative zone (J:112540)
• cellular organization of the cartilage growth plate is disturbed, with fewer stacks of flattened chondrocytes in the proliferative zone (J:112540)
• mutants exhibit fewer stacks of flattened chondrocytes in the proliferative zone (J:112540)
• mutants exhibit fewer stacks of flattened chondrocytes in the proliferative zone (J:112540)
• mineralization of primary and secondary ossification centers is delayed (J:112540)
• mineralization of primary and secondary ossification centers is delayed (J:112540)

growth/size/body
• small thorax (J:112540)
• small thorax (J:112540)
• short trunk (J:112540)
• short trunk (J:112540)
• mutants are severely dwarfed (J:112540)
• mutants are severely dwarfed (J:112540)

digestive/alimentary system

limbs/digits/tail
• shortened limb bones (J:112540)
• shortened limb bones (J:112540)

craniofacial

reproductive system
• small litter size, from 2-6 pups (J:112540)
• small litter size, from 2-6 pups (J:112540)

respiratory system

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory