Phenotypes Associated with This Genotype

Genotype
MGI:3699178

• Allelic Composition: Gba1^tm1Clk/Gba1^tm1.1Clk; Tg(Tek-cre)12Flv/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

abnormal macrophage morphology ( J:117763 )

• 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

abnormal spleen morphology ( J:117763 )

• by 26 weeks, spleens are visibly mottled with a fatty and cobbled surface appearance

• rafts of lipid engorged macrophages are observed

increased spleen weight ( J:117763 )

• overt in 2/3 of animals by 26 weeks of age; weight is as much as 6 times control value

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:117763 )

• 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

abnormal liver morphology ( J:117763 )

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

hematopoietic system

abnormal macrophage morphology ( J:117763 )

• 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

abnormal spleen morphology ( J:117763 )

• by 26 weeks, spleens are visibly mottled with a fatty and cobbled surface appearance

• rafts of lipid engorged macrophages are observed

increased spleen weight ( J:117763 )

• overt in 2/3 of animals by 26 weeks of age; weight is as much as 6 times control value

skeleton

abnormal bone marrow morphology ( J:117763 )

• small numbers of Gaucher cells can be found

growth/size/body

increased spleen weight ( J:117763 )

• overt in 2/3 of animals by 26 weeks of age; weight is as much as 6 times control value

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gaucher's disease type I		DOID:0110957	OMIM:230800	J:117763