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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Gba1tm1.1Clk
targeted mutation 1.1, Lorne A Clarke
MGI:3698019
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Gba1tm1.1Clk/Gba1tm1.1Clk involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3699192
cn2
 		Gba1tm1Clk/Gba1tm1.1Clk
Lyz2tm1(cre)Ifo/Lyz2+ 		involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3699187
cn3
 		Gba1tm1Clk/Gba1tm1.1Clk
Tg(Tek-cre)12Flv/0 		involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J MGI:3699178
cn4
 		Gba1tm1Clk/Gba1tm1.1Clk
Tg(EIIa-cre)C5379Lmgd/0 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N MGI:3699180


Genotype
MGI:3699192
hm1
Allelic
Composition		 Gba1tm1.1Clk/Gba1tm1.1Clk
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gba1tm1.1Clk mutation (2 available); any Gba1 mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, complete penetrance ( J:117763 )
• pups die within 3 hours of birth

behavior/neurological
aphagia ( J:117763 )
• newborns do not feed

integument
reddish skin ( J:117763 )
• mutants have red, wrinkled skin




Genotype
MGI:3699187
cn2
Allelic
Composition		 Gba1tm1Clk/Gba1tm1.1Clk
Lyz2tm1(cre)Ifo/Lyz2+
Genetic
Background		 involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gba1tm1.1Clk mutation (2 available); any Gba1 mutation (43 available)
Gba1tm1Clk mutation (1 available); any Gba1 mutation (43 available)
Lyz2tm1(cre)Ifo mutation (14 available); any Lyz2 mutation (41 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal enzyme/coenzyme activity ( J:117763 )
• tissue glucocerebrosidase activity is reduced to ~30-50% of control levels in all tissues




Genotype
MGI:3699178
cn3
Allelic
Composition		 Gba1tm1Clk/Gba1tm1.1Clk
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:
Gba1tm1.1Clk mutation (2 available); any Gba1 mutation (43 available)
Gba1tm1Clk mutation (1 available); any Gba1 mutation (43 available)
Tg(Tek-cre)12Flv mutation (1 available)
♀ 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




Genotype
MGI:3699180
cn4
Allelic
Composition		 Gba1tm1Clk/Gba1tm1.1Clk
Tg(EIIa-cre)C5379Lmgd/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gba1tm1.1Clk mutation (2 available); any Gba1 mutation (43 available)
Gba1tm1Clk mutation (1 available); any Gba1 mutation (43 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal enzyme/coenzyme activity ( J:117763 )
• tissue glucocerebrosidase activity is reduced to ~30% of control levels except in spleen (38%) and peripheral white cells (45%)




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/09/2024
MGI 6.23 		The Jackson Laboratory