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Phenotypes Associated with This Genotype
Genotype
MGI:5007718
Allelic
Composition
Col2a1Rgsc856/Col2a1Rgsc856
Genetic
Background
involves: C57BL/6JJcl * DBA/2JJcl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1Rgsc856 mutation (1 available); any Col2a1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal abnormalities in Col2a1Rgsc856/Col2a1+ and Col2a1Rgsc856/Col2a1Rgsc856 mice at E18.5

mortality/aging

skeleton
• severe skeletal dysplasia
• severe pelvic hypoplasia
• severe spondylar dysplasia
• in the resting and proliferating zones chondrocytes have a spindle like shape
• in proliferating chondrocytes the rough ER is expanded
• total length of the growth plate is drastically reduced but the diameter is increased
• columnar alignment of proliferating chondrocytes is completely lost but hypertrophic chondrocytes are present
• drastic decrease in extracellular matrix in the proliferating zone
• at E18.5 in the proliferating zone of the femur, collagen fibers are markedly reduced and proteoglycan aggregates are reduced and irregular in size
• at E19.5 in the proliferating zone of the femur, type II collagen is barely detectable in the extracellular space and instead is mainly detected in the intracellular space, unlike in wild-type mice
• expression analysis indicates an increase in ER stress in rib cartilage at E18.5

growth/size/body
• severe dwarfism

craniofacial

limbs/digits/tail
• extremely shortened limbs

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spondyloepimetaphyseal dysplasia DOID:0080027 J:171906


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory