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Phenotypes Associated with This Genotype
Genotype
MGI:3699178
Allelic
Composition
Gbatm1Clk/Gbatm1.1Clk
Tg(Tek-cre)12Flv/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gbatm1.1Clk mutation (0 available); any Gba mutation (17 available)
Gbatm1Clk mutation (1 available); any Gba mutation (17 available)
Tg(Tek-cre)12Flv mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• lipid-laden macrophages are found in liver and spleen beginning at 16 weeks of age; these have tissue-paper like cytoplasmic inclusions (Gaucher cells)
• macrophages with organized glucocerebroside storage material enclosed in membrane bound lysosomal extensions are observed in affected spleens at 26 weeks
• by 26 weeks, spleens are visibly mottled with a fatty and cobbled surface appearance
• rafts of lipid engorged macrophages are observed
• overt in 2/3 of animals by 26 weeks of age; weight is as much as 6 times control value

homeostasis/metabolism
• glucocerebrosidase activity level is reduced to 50% of controls in all tissues; activity is variable in peripheral white cells, ranging from <3% to 30%

liver/biliary system
• by 26 weeks, liver contains Gaucher cells, with some rafting

hematopoietic system
• lipid-laden macrophages are found in liver and spleen beginning at 16 weeks of age; these have tissue-paper like cytoplasmic inclusions (Gaucher cells)
• macrophages with organized glucocerebroside storage material enclosed in membrane bound lysosomal extensions are observed in affected spleens at 26 weeks
• by 26 weeks, spleens are visibly mottled with a fatty and cobbled surface appearance
• rafts of lipid engorged macrophages are observed
• overt in 2/3 of animals by 26 weeks of age; weight is as much as 6 times control value

skeleton
• small numbers of Gaucher cells can be found

Mouse Models of Human Disease
OMIM ID Ref(s)
Gaucher Disease, Type I 230800 J:117763


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
09/13/2016
MGI 6.05
The Jackson Laboratory