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Phenotypes Associated with This Genotype
Genotype
MGI:2680512
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
DO ID OMIM ID(s) Ref(s)
Gaucher's disease DOID:1926 OMIM:230800
OMIM:230900
OMIM:231000
OMIM:608013
OMIM:610539
J:86334


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/18/2017
MGI 6.08
The Jackson Laboratory