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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gbatm1.1Karl
targeted mutation 1.1, Stefan Karlsson
MGI:3687966
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gbatm1.1Karl/Gbatm1.1Karl involves: 129S1/Sv * 129X1/SvJ MGI:3688419
ht2
Gbatm1.1Karl/Gba+ involves: 129S1/Sv * 129X1/SvJ MGI:3688421
cn3
Gbatm1Karl/Gbatm1.1Karl
Tg(Mx1-cre)1Cgn/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:3688418


Genotype
MGI:3688419
hm1
Allelic
Composition
Gbatm1.1Karl/Gbatm1.1Karl
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gbatm1.1Karl mutation (0 available); any Gba mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within first day of life from lethal skin phenotype

Mouse Models of Human Disease
OMIM ID Ref(s)
Gaucher Disease, Type I 230800 J:113751




Genotype
MGI:3688421
ht2
Allelic
Composition
Gbatm1.1Karl/Gba+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gbatm1.1Karl mutation (0 available); any Gba mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mice have ~50% glucosylceramidase activity of wild-type




Genotype
MGI:3688418
cn3
Allelic
Composition
Gbatm1Karl/Gbatm1.1Karl
Tg(Mx1-cre)1Cgn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gbatm1.1Karl mutation (0 available); any Gba mutation (15 available)
Gbatm1Karl mutation (1 available); any Gba mutation (15 available)
Tg(Mx1-cre)1Cgn mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 5 months post-transplant of wild-type bone marrow into deficient mice 1.5 months after Gba-depletion results in significantly higher glucosylceramidase activity in bone marrow, spleen and liver of recipients

hematopoietic system
• after 16 months of disease (cre) induction, significantly reduced compared to control
• after 16 months of disease (cre) induction, significantly reduced compared to control
• after 16 months of disease (cre) induction, significantly reduced compared to control
• after disease (cre) induction following birth, 12 month -old Gba-deficient mice have disrupted splenic architecture
• demarcation of red and white pulp is not evident

immune system
• spleen, thymus, liver and lymph nodes of 12 month old cre-induced Gba-null mice show massive infiltration of mainly multinucleated Gaucher cells, and cytoplasm had "wrinkled tissue-paper"-like appearance
• after disease (cre) induction following birth, 12 month -old Gba-deficient mice have disrupted splenic architecture
• demarcation of red and white pulp is not evident
• 5 months after bone marrow transplant, no Gaucher cells are observed
• if Gaucher disease is allowed to progress for 7.5 months before bone marrow transplant, when examined at 13 months of age, recipients have been cleared of all (4/6) or all but a few (2/6) Gaucher cells

liver/biliary system
• after 16 months of disease (cre) induction, liver is slightly enlarged, but less so than spleen
• after 16 months of disease (cre) induction, liver is pale

skeleton
• bone marrow shows massive infiltration by Gaucher cells

Mouse Models of Human Disease
OMIM ID Ref(s)
Gaucher Disease, Type I 230800 J:113751





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory