Human Disease and Mouse Model Detail

Human Disease

Term: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy;
OMIM ID: 221770

Synonyms

Brain-Bone-Fat Disease; Dementia, Prefrontal, with Bone Cysts; Dementia, Progressive, with Lipomembranous Polycystic Osteodysplasia; Nasu-Hakola Disease; NHD; Plosl; Presenile Dementia with Bone Cysts

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...

Tyrobp

TYROBP

...both mouse and human orthologous genes.

Trem2

TREM2

...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
Tyrobp^tm1Ttk/Tyrobp^tm1Ttk			involves: 129P2/OlaHsd * C57BL/6	J:81823
No similarity to the expected human disease phenotype was found.²
NOT	Tyrobp^tm1.1Viv/Tyrobp^tm1.1Viv		B6.129P2-Tyrobp^tm1.1Viv	J:95232

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.

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