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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gbatm2Ggb
targeted mutation 2, Gregory A Grabowski
MGI:2680322
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gbatm2Ggb/Gbatm2Ggb involves: 129S5/SvEvBrd * C57BL/6 MGI:2680393
ht2
Gbatm2Ggb/Gbatm1Nsb involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 MGI:2680399
cx3
Gbatm2Ggb/Gbatm2Ggb
Psaptm1Suz/Psaptm1Suz
involves: 129P2/OlaHsd * 129S5/SvEvBrd MGI:5287721


Genotype
MGI:2680393
hm1
Allelic
Composition
Gbatm2Ggb/Gbatm2Ggb
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gbatm2Ggb mutation (0 available); any Gba mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• small accumulations of glucosylceramide at 13 months of age (J:86334)
• small accumulations of glucosylceramide at 13 months of age (J:86334)

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

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

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

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

Mouse Models of Human Disease
OMIM ID Ref(s)
Gaucher Disease, Type I 230800 J:86334
Gaucher Disease, Type III 231000 J:86334




Genotype
MGI:2680399
ht2
Allelic
Composition
Gbatm2Ggb/Gbatm1Nsb
Genetic
Background
involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gbatm1Nsb mutation (2 available); any Gba mutation (12 available)
Gbatm2Ggb mutation (0 available); any Gba mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• small accumulations of glucosylceramide at 9 months of age (J:86334)
• small accumulations of glucosylceramide at 9 months of age (J:86334)

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

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

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

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

Mouse Models of Human Disease
OMIM ID Ref(s)
Gaucher Disease, Type I 230800 J:86334
Gaucher Disease, Type III 231000 J:86334




Genotype
MGI:5287721
cx3
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 (12 available)
Psaptm1Suz mutation (1 available); any Psap mutation (9 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 (J:174780)
• degenerative changes occur concomitantly with an accumulation of soluble and insoluble alpha-synuclein (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 (J:174780)
• degenerative changes occur concomitantly with an accumulation of soluble and insoluble alpha-synuclein (J:174780)





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory