Mouse Genome Informatics
cn
    Gbatm1Clk/Gbatm1.1Clk
Tg(Tek-cre)12Flv/0

involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Gaucher Disease, Type I 230800 J:117763