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Phenotypes Associated with This Genotype
Genotype
MGI:5287721
Allelic
Composition		 Gba1tm2Ggb/Gba1tm2Ggb
Psaptm1Suz/Psaptm1Suz
Genetic
Background		 involves: 129P2/OlaHsd * 129S5/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gba1tm2Ggb mutation (0 available); any Gba1 mutation (47 available)
Psaptm1Suz mutation (1 available); any Psap mutation (36 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
neuron degeneration ( J:174780 )
• 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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory