Human Disease and Mouse Model Detail

Human Disease

Term: Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome; CACP
OMIM ID: 208250

Synonyms

Arthropathy-Camptodactyly Syndrome; Camptodactyly-Arthropathy-Pericarditis Syndrome; CAP Syndrome; Fibrosing Serositis, Familial; Hypertrophic Synovitis, Congenital Familial; Jacobs Syndrome; PAC Syndrome; Pericarditis-Arthropathy-Camptodactyly Syndrome

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Prg4

PRG4

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Prg4^tm1Mawa/Prg4^tm1Mawa		involves: 129S/SvEv	J:96756

¹Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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