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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Errfi1tm1Gvw
targeted mutation 1, George F Vande Woude
MGI:3603195
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Errfi1tm1Gvw/Errfi1tm1Gvw Not Specified MGI:3603638
cx2
Errfi1tm1Gvw/Errfi1tm1Gvw
Rag2tm1Fwa/Rag2tm1Fwa
involves: 129S/SvEv MGI:3603639


Genotype
MGI:3603638
hm1
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 (18 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




Genotype
MGI:3603639
cx2
Allelic
Composition
Errfi1tm1Gvw/Errfi1tm1Gvw
Rag2tm1Fwa/Rag2tm1Fwa
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Errfi1tm1Gvw mutation (0 available); any Errfi1 mutation (18 available)
Rag2tm1Fwa mutation (48 available); any Rag2 mutation (117 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• the osteoarthritic phenotype of Errfi1 targeted mutants is not rescued by disruption of Rag2 indicating that the acquired immune system is not required for the development of this phenotype

immune system
• the osteoarthritic phenotype of Errfi1 targeted mutants is not rescued by disruption of Rag2 indicating that the acquired immune system is not required for the development of this phenotype





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
06/12/2024
MGI 6.13
The Jackson Laboratory