Human Disease and Mouse Model Detail

Human Disease

Term: Gaucher Disease, Type II
OMIM ID: 230900

Synonyms

Gaucher Disease, Acute Neuronopathic Type; GD II

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...

Gba

GBA

...both mouse and human orthologous genes.

Psap

PSAP

...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
Gba^tm1Nsb/Gba^tm1Nsb		involves: 129S/SvEv * C57BL/6	J:1100
Gba^tm2Ggb/Gba^tm2Ggb Psap^tm1Suz/Psap^tm1Suz		involves: 129P2/OlaHsd * 129S5/SvEvBrd	J:174780
Gba^tm2Karl/Gba^tm2Karl Tg(KRT14-cre)8Brn/?	2	involves: 129S1/Sv * 129X1/SvJ * FVB/N	J:127108

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