Mouse Genome Informatics
hm1
    Gbatm1.1Clk/Gbatm1.1Clk
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• pups die within 3 hours of birth

behavior/neurological
• newborns do not feed

integument
• mutants have red, wrinkled skin


Mouse Genome Informatics
cn2
    Gbatm1Clk/Gbatm1.1Clk
Lyz2tm1(cre)Ifo/Lyz2+

involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• tissue glucocerebrosidase activity is reduced to ~30-50% of control levels in all tissues


Mouse Genome Informatics
cn3
    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


Mouse Genome Informatics
cn4
    Gbatm1Clk/Gbatm1.1Clk
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• tissue glucocerebrosidase activity is reduced to ~30% of control levels except in spleen (38%) and peripheral white cells (45%)