Human Disease and Mouse Model Detail

Human Disease

Term: Basal Cell Nevus Syndrome; BCNS
OMIM ID: 109400

Synonyms

Gorlin-Goltz Syndrome; Gorlin Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies; Nevoid Basal Cell Carcinoma Syndrome; NBCCS

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...

Ptch1

PTCH1

...both mouse and human orthologous genes.

Sufu

SUFU

...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
Ptch1^tm1Kmmt/Ptch1⁺		involves: 129S7/SvEvBrd * C57BL/6J	J:102978
Ptch1^tm1Mps/Ptch1⁺		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	J:42441
Ptch1^tm1Zim/Ptch1⁺		either: (involves: 129/Sv * C57BL/6) or (involves: 129/Sv * CD-1)	J:47421
Models with phenotypic similarity to human disease where etiologies are distinct.²
Sufu^tm1Rto/Sufu⁺		involves: 129X1/SvJ * C57BL/6	J:105832

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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