Human Disease and Mouse Model Detail

Human Disease

Term: CINCA Syndrome; CINCA
OMIM ID: 607115

Synonyms

Chronic Neurologic Cutaneous and Articular Syndrome; Cryopyrin-Associated Periodic Syndrome 3; CAPS3; Multisystem Inflammatory Disease, Neonatal-Onset; NOMID

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...

Prkaca	PRKACA
Prkar1a	PRKAR1A

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

Nlrp3

NLRP3

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Prkaca^tm1Gsm/Prkaca⁺ Prkar1a^tm1.1Lsk/Prkar1a⁺		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:166728

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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