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Phenotypes Associated with This Genotype
Genotype
MGI:3603638
Allelic
Composition
Errfi1tm1Gvw/Errfi1tm1Gvw
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Errfi1tm1Gvw mutation (0 available); any Errfi1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Errfi1tm1Gvw/Errfi1tm1Gvw mouse joints display pathological features of osteoarthritis

mortality/aging
• mojority of homozygotes die by 6 months of age likely from TMJ ankylosis and at late stage of disease appear exhausted and thin

craniofacial

skeleton
• between 12 and 20 days of age no structural abnormalities in the joints but by 1.5 months of age osteophyte development within the joint space adjacent to the margin of the synovial and cartilage junctions with progressive narrowing of the joint space
• degradation of articular cartilage with signs of regeneration, hyperplasticity of synovial cells lining the joints
• subchondral cyst formation
• abnormally robust vascularization in diseased joints
• osteophyte formation appears to derive from proliferation of mesenchymal progenitor cells followed by differentiation into chondrocytes
• early onset degenerative joint disease with enlargement and deformity of multiple joints particularly knee, ankle, and temporal-mandibular joint

immune system
• between 12 and 20 days of age no structural abnormalities in the joints but by 1.5 months of age osteophyte development within the joint space adjacent to the margin of the synovial and cartilage junctions with progressive narrowing of the joint space
• degradation of articular cartilage with signs of regeneration, hyperplasticity of synovial cells lining the joints
• subchondral cyst formation
• abnormally robust vascularization in diseased joints
• osteophyte formation appears to derive from proliferation of mesenchymal progenitor cells followed by differentiation into chondrocytes
• early onset degenerative joint disease with enlargement and deformity of multiple joints particularly knee, ankle, and temporal-mandibular joint

behavior/neurological
• as early as 1 month of age

cardiovascular system
• in diseased joints

renal/urinary system
N
• no pathological changes or defects detected

liver/biliary system
N
• no pathological changes or defects detected

hematopoietic system

endocrine/exocrine glands

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteoarthritis DOID:8398 J:100927


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
02/16/2021
MGI 6.16
The Jackson Laboratory