Human Disease and Mouse Model Detail

Human Disease

Term: Familial Cold Autoinflammatory Syndrome 1; FCAS1
OMIM ID: 120100

Synonyms

Cold Hypersensitivity; Cold-Induced Autoinflammatory Syndrome, Familial; Cold Urticaria, Familial; FCU; Cryopyrin-Associated Periodic Syndrome 1; CAPS1; Fcas

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...

Nlrp3

NLRP3

...both mouse and human orthologous genes.

Lyz2

none identified

...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 involve orthologs.¹
Nlrp3^tm2Hhf/Nlrp3⁺ Lyz2^tm1(cre)Ifo/Lyz2⁺	2	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	J:150054
Nlrp3^tm2Hhf/Nlrp3⁺ Tg(CAG-cre/Esr1*)5Amc/?	2	involves: 129/Sv * C57BL/6 * CBA	J:150054

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Conditionally targeted allele(s)

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