Human Disease and Mouse Model Detail

Human Disease

Term: Meningioma, Familial, Susceptibility to
OMIM ID: 607174

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...

Nf2

NF2

...both mouse and human orthologous genes.

Cdkn2a

CDKN2A

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Mn1	MN1
Pten	PTEN
Sufu	SUFU

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Cdkn2a^tm1.1Brn/Cdkn2a^tm1.1Brn Nf2^tm2Gth/Nf2^tm2Gth		3	involves: 129P2/OlaHsd * FVB/N	J:131179
No similarity to the expected human disease phenotype was found.²
NOT	Nf2^tm1Tyj/Nf2⁺		either: (involves: 129S2/SvPas * 129S4/SvJae * C57BL/6) or (involves: 129S2/SvPas * C57BL/6J)	J:47282

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.
³Conditionally 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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