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Phenotypes Associated with This Genotype
Genotype
MGI:6151404
Allelic
Composition
Col2a1Rgsc413/Col2a1Rgsc413
Genetic
Background
involves: C57BL/6JJcl * DBA/2JJcl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1Rgsc413 mutation (0 available); any Col2a1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice with severe dwarfism die at birth

skeleton
• of proliferating chondrocytes associated with ER stress
• markedly reduced
• expanded rough ER in chondrocytes of the proliferating zone
• loss of columnar alignment with spindle-like shaped chondrocytes and loss of type II collagen in extracellular spaces but rather the intracellular spaces of chondrocytes
• severe pelvic hypoplasia

craniofacial

growth/size/body

limbs/digits/tail
• extremely shortened

cellular
• of proliferating chondrocytes associated with ER stress

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spondyloepimetaphyseal dysplasia DOID:0080027 J:260538


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
10/15/2019
MGI 6.14
The Jackson Laboratory