Human Disease and Mouse Model Detail

Human Disease

Term: Birt-Hogg-Dube Syndrome; BHD
OMIM ID: 135150

Synonyms

Fibrofolliculomas with Trichodiscomas and Acrochordons; Hornstein-Knickenberg 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...

Flcn

FLCN

...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
Flcn^tm1Baba/Flcn^tm1.1Lss Tg(Cdh16-cre)91Igr/0	2	involves: C57BL/6 * FVB/N * ICR * SJL	J:130978
Flcn^tm1Btt/Flcn^tm1Btt Tg(Cdh16-cre)91Igr/0	2	involves: 129X1/SvJ * C57BL/6 * ICR	J:143922

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
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12