Human Disease and Mouse Model Detail

Human Disease

Term: Netherton Syndrome; NETH
OMIM ID: 256500

Synonyms

Netherton Disease; NS

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...

Spink5

SPINK5

...both mouse and human orthologous genes.

Dsg4	DSG4
F2rl1	F2RL1

...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
F2rl1^tm1Cgh/F2rl1^tm1Cgh Spink5^tm1Hov/Spink5^tm1Hov		involves: 129P2/OlaHsd * 129S4/SvJae	J:180855
Spink5^m1Btlr/Spink5^m1Btlr		involves: C57BL/6J	J:183755
Spink5^tm1Drh/Spink5^tm1Drh		involves: 129P2/OlaHsd * C57BL/6	J:95549
Spink5^tm1Hov/Spink5^tm1Hov		involves: 129P2/OlaHsd * FVB	J:96435
Spink5^{Tn(Pgk2-sb10,sb-Tyr)1498Ove}/Spink5^{Tn(Pgk2-sb10,sb-Tyr)1498Ove}		involves: FVB/N	J:93050
Models with phenotypic similarity to human disease where etiologies are distinct.²
Dsg4^lah-J/Dsg4^lah-J		DBA/1LacJ	J:83117
Dsg4^lah/Dsg4^lah		LAH/Pas	J:33849

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human 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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