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Phenotypes Associated with This Genotype
Genotype
MGI:5287721
Allelic
Composition
Gbatm2Ggb/Gbatm2Ggb
Psaptm1Suz/Psaptm1Suz
Genetic
Background
involves: 129P2/OlaHsd * 129S5/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gbatm2Ggb mutation (0 available); any Gba mutation (34 available)
Psaptm1Suz mutation (1 available); any Psap mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• degenerating neurons are seen in multiple brain regions in 12 week old mutants, including the substantia nigra and cortex as indicated by the presence of eosinophilic spheroids
• degenerative changes occur concomitantly with an accumulation of soluble and insoluble alpha-synuclein

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Gaucher's disease DOID:1926 J:174780


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/24/2023
MGI 6.22
The Jackson Laboratory