Human Disease and Mouse Model Detail

Human Disease

Term: Popliteal Pterygium Syndrome; PPS
OMIM ID: 119500

Synonyms

Cleft Lip/Palate, Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, Digital and Genital Anomalies; Faciogenitopopliteal 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...

Irf6

IRF6

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Irf6^{Gt(OST398253)Lex}/Irf6^{Gt(OST398253)Lex}		involves: 129S5/SvEvBrd * C57BL/6	J:115343
Irf6^tm1Mjd/Irf6⁺		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:116077

¹Human genes are associated with this disease. Mouse model genotypes 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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