|
Symbol Name ID |
Gba1
glucosylceramidase beta 1 MGI:95665 |
| Darker colors indicate more annotations |
| Human Phenotypes | Polyclonal elevation of IgM |
Increased circulating antibody level |
Abnormal bleeding |
Spontaneous, recurrent epistaxis |
Gingival bleeding |
Intracranial hemorrhage |
Bruising susceptibility |
Ecchymosis |
Pancytopenia |
Anemia |
Leukopenia |
Abnormality of coagulation |
Thrombocytopenia |
Multiple myeloma |
Abnormality of the spleen |
Splenic infarction |
Splenic rupture |
Splenomegaly |
Hepatosplenomegaly |
Hypersplenism |
| Disease(s) Associated with GBA1 | ||||||||||||||||||||
| Gaucher's disease | ||||||||||||||||||||
| Gaucher's disease perinatal lethal | ||||||||||||||||||||
| Gaucher's disease type I | ||||||||||||||||||||
| Gaucher's disease type II | ||||||||||||||||||||
| Gaucher's disease type III | ||||||||||||||||||||
| Gaucher's disease type IIIC |
| Mouse Phenotypes | abnormal Kupffer cell morphology |
abnormal thymus morphology |
enlarged spleen |
increased spleen weight |
spleen hyperplasia |
abnormal T cell differentiation |
decreased double-positive T cell number |
extramedullary hematopoiesis |
anemia |
decreased erythrocyte cell number |
decreased hematocrit |
decreased hemoglobin content |
decreased mean corpuscular volume |
decreased leukocyte cell number |
abnormal macrophage morphology |
abnormal microglial cell morphology |
abnormal spleen morphology |
intermingled spleen red and white pulp |
increased IgG level |
|
| Availability | Mouse Genotype | |||||||||||||||||||
| Gba1tm1Nsb/Gba1tm1Nsb | ||||||||||||||||||||
| Gba1tm1Rlp/Gba1tm1Rlp | ||||||||||||||||||||
| Gba1tm2Ggb/Gba1tm2Ggb | ||||||||||||||||||||
| Gba1tm3Ggb/Gba1tm3Ggb | ||||||||||||||||||||
| Gba1tm4Ggb/Gba1tm4Ggb | ||||||||||||||||||||
| Gba1tm2Ggb/Gba1tm1Nsb | ||||||||||||||||||||
| Gba1tm3Ggb/Gba1tm1Nsb | ||||||||||||||||||||
| Gba1tm4Ggb/Gba1tm1Nsb | ||||||||||||||||||||
| Gba1tm1.1Pmis/Gba1tm1.1Pmis Tg(Mx1-cre)1Cgn/0 (conditional) |
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| Gba1tm1Karl/Gba1tm1Karl Tg(Nes-cre)1Kln/? (conditional) |
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| Gba1tm2Karl/Gba1tm2Karl Tg(KRT14-cre)8Brn/? (conditional) |
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| Gba1tm1.1Pmis/Gba1tm1.2Pmis Tg(Mx1-cre)1Cgn/0 (conditional) |
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| Gba1tm1Clk/Gba1tm1.1Clk Tg(Tek-cre)12Flv/0 (conditional) |
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| Gba1tm1Karl/Gba1tm1.1Karl Tg(Mx1-cre)1Cgn/0 (conditional) |
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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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last database update 06/12/2024 MGI 6.13 |
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