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Human Disease and Mouse Model Detail
Human Disease

Term: Gaucher Disease, Type I
OMIM ID: 230800

Synonyms Acid Beta-Glucosidase Deficiency; Gaucher Disease, Noncerebral Juvenile; GBA Deficiency; GD I; Glucocerebrosidase Deficiency
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
  mousehuman...both mouse and human orthologous genes.
     
Psap PSAP
  mouse...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
Gbatm1.1Karl/Gbatm1.1Karl   involves: 129S1/Sv * 129X1/SvJ J:113751
Gbatm1.1Pmis/Gbatm1.1Pmis
Tg(Mx1-cre)1Cgn/0
2 involves: C57BL/6 * CBA J:167081
Gbatm1.1Pmis/Gbatm1.2Pmis
Tg(Mx1-cre)1Cgn/0
2 involves: C57BL/6 * CBA J:167081
Gbatm1Clk/Gbatm1.1Clk
Tg(Tek-cre)12Flv/0
2 involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J J:117763
Gbatm1Ggb/Gbatm1Ggb   involves: 129S5/SvEvBrd * C57BL/6 J:86334
Gbatm1Karl/Gbatm1.1Karl
Tg(Mx1-cre)1Cgn/0
2 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA J:113751
Gbatm2Ggb/Gbatm1Nsb   involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 J:86334
Gbatm2Ggb/Gbatm2Ggb
Psaptm1Suz/Psaptm1Suz
  involves: 129P2/OlaHsd * 129S5/SvEvBrd J:174780
Gbatm2Ggb/Gbatm2Ggb   involves: 129S5/SvEvBrd * C57BL/6 J:86334
Gbatm3Ggb/Gbatm1Nsb   involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 J:86334
Gbatm3Ggb/Gbatm3Ggb   involves: 129S5/SvEvBrd J:86334
Gbatm4Ggb/Gbatm1Nsb   involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 J:86334
Gbatm4Ggb/Gbatm4Ggb   involves: 129S5/SvEvBrd * C57BL/6 J:86334

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
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory