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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Gba1tm2Ggb
targeted mutation 2, Gregory A Grabowski
MGI:2680322
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Gba1tm2Ggb/Gba1tm2Ggb involves: 129S5/SvEvBrd * C57BL/6 MGI:2680393
ht2
 		Gba1tm2Ggb/Gba1tm1Nsb involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 MGI:2680399
cx3
 		Gba1tm2Ggb/Gba1tm2Ggb
Psaptm1Suz/Psaptm1Suz 		involves: 129P2/OlaHsd * 129S5/SvEvBrd MGI:5287721


Genotype
MGI:2680393
hm1
Allelic
Composition		 Gba1tm2Ggb/Gba1tm2Ggb
Genetic
Background		 involves: 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gba1tm2Ggb mutation (0 available); any Gba1 mutation (47 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal pulmonary circulation ( J:86334 )
• small accumulations of glucosylceramide at 13 months of age

hematopoietic system
abnormal spleen morphology ( J:86334 )
• small numbers of storage cells at 1 year of age
• small accumulations of glucosylceramide at 13 months of age

immune system
abnormal spleen morphology ( J:86334 )
• small numbers of storage cells at 1 year of age
• small accumulations of glucosylceramide at 13 months of age

liver/biliary system
abnormal liver physiology ( J:86334 )
• small accumulations of Glucosylceramide at 13 months of age

respiratory system
abnormal pulmonary circulation ( J:86334 )
• small accumulations of glucosylceramide at 13 months of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Gaucher's disease DOID:1926 J:86334




Genotype
MGI:2680399
ht2
Allelic
Composition		 Gba1tm2Ggb/Gba1tm1Nsb
Genetic
Background		 involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gba1tm1Nsb mutation (2 available); any Gba1 mutation (47 available)
Gba1tm2Ggb mutation (0 available); any Gba1 mutation (47 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal pulmonary circulation ( J:86334 )
• small accumulations of glucosylceramide at 9 months of age

hematopoietic system
abnormal spleen morphology ( J:86334 )
• small numbers of storage cells at 8-9 months of age
• small accumulations of glucosylceramide at 9 months of age

immune system
abnormal spleen morphology ( J:86334 )
• small numbers of storage cells at 8-9 months of age
• small accumulations of glucosylceramide at 9 months of age

liver/biliary system
abnormal liver physiology ( J:86334 )
• small accumulations of glucosylceramide at 9 months of age

respiratory system
abnormal pulmonary circulation ( J:86334 )
• small accumulations of glucosylceramide at 9 months of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Gaucher's disease DOID:1926 J:86334




Genotype
MGI:5287721
cx3
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
10/29/2024
MGI 6.24 		The Jackson Laboratory