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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gbatm1Nsb
targeted mutation 1, Edward Ginns
MGI:1857175
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gbatm1Nsb/Gbatm1Nsb involves: 129S/SvEv * C57BL/6 MGI:2177138
ht2
Gbatm2Ggb/Gbatm1Nsb involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 MGI:2680399
ht3
Gbatm3Ggb/Gbatm1Nsb involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 MGI:2680504
ht4
Gbatm4Ggb/Gbatm1Nsb involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 MGI:2680512
cx5
Gba/Mtx1tm1Bst/Gbatm1Nsb
Gba/Mtx1tm1Bst/Mtx1+
involves: 129S/SvEv * 129S4/SvJae MGI:3652806


Genotype
MGI:2177138
hm1
Allelic
Composition
Gbatm1Nsb/Gbatm1Nsb
Genetic
Background
involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gbatm1Nsb mutation (2 available); any Gba mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

behavior/neurological
• decreased feeding

growth/size/body
• underweight, evident at birth

hematopoietic system
• macrophages in liver, bone marrow, spleen, and brain show lysosomal lipid accumulation

homeostasis/metabolism

immune system
• macrophages in liver, bone marrow, spleen, and brain show lysosomal lipid accumulation

respiratory system
• respire abnormally from birth

Mouse Models of Human Disease
OMIM ID Ref(s)
Gaucher Disease, Type II 230900 J:1100




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 (17 available)
Gbatm2Ggb mutation (0 available); any Gba mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• small accumulations of glucosylceramide at 9 months of age

hematopoietic system
• small numbers of storage cells at 8-9 months of age
• small accumulations of glucosylceramide at 9 months of age

immune system
• small numbers of storage cells at 8-9 months of age
• small accumulations of glucosylceramide at 9 months of age

liver/biliary system
• small accumulations of glucosylceramide at 9 months of age

respiratory system
• small accumulations of glucosylceramide at 9 months of age

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:2680504
ht3
Allelic
Composition
Gbatm3Ggb/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 (17 available)
Gbatm3Ggb mutation (0 available); any Gba mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

hematopoietic system
• small numbers of storage cells at 3-4 months of age
• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

immune system
• small numbers of storage cells at 3-4 months of age
• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

liver/biliary system
• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

respiratory system
• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

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:2680512
ht4
Allelic
Composition
Gbatm4Ggb/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 (17 available)
Gbatm4Ggb mutation (0 available); any Gba mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• large numbers of storage cells at 3 months of age
• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

hematopoietic system
• small numbers of storage cells at 3-4 months of age
• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

immune system
• small numbers of storage cells at 3-4 months of age
• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

liver/biliary system
• small numbers of storage cells at 3 months of age
• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

respiratory system
• large numbers of storage cells at 3 months of age
• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

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:3652806
cx5
Allelic
Composition
Gba/Mtx1tm1Bst/Gbatm1Nsb
Gba/Mtx1tm1Bst/Mtx1+
Genetic
Background
involves: 129S/SvEv * 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gba/Mtx1tm1Bst mutation (0 available); any Gba mutation (17 available)
Gba/Mtx1tm1Bst mutation (0 available); any Mtx1 mutation (10 available)
Gbatm1Nsb mutation (2 available); any Gba mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• animals die within 24 hours of birth

homeostasis/metabolism
• mutants have about 5% of control glucocerebrosidase activity





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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory