|
Symbol Name ID |
Gba
glucosidase, beta, acid MGI:95665 |
| Darker colors indicate more annotations |
| Human Phenotypes | Increased circulating antibody level |
Pedal edema |
Elevated circulating C-reactive protein concentration |
Decreased beta-glucocerebrosidase level |
Hydrops fetalis |
Nonimmune hydrops fetalis |
Fever |
Hematuria |
Proteinuria |
Aortic valve calcification |
Mitral valve calcification |
Calcification of the aorta |
Vascular calcification |
Ascites |
| Disease(s) Associated with GBA1 | ||||||||||||||
| Gaucher's disease | ||||||||||||||
| Gaucher's disease perinatal lethal | ||||||||||||||
| Gaucher's disease type I | ||||||||||||||
| Gaucher's disease type III | ||||||||||||||
| Gaucher's disease type IIIC |
| Mouse Phenotypes | decreased circulating HDL cholesterol level |
decreased circulating cholesterol level |
abnormal circulating cytokine level |
abnormal circulating chemokine level |
increased circulating interferon-gamma level |
decreased circulating interleukin-1 alpha level |
decreased circulating interleukin-1 beta level |
increased circulating interleukin-10 level |
increased circulating interleukin-13 level |
increased circulating interleukin-2 level |
increased circulating interleukin-3 level |
decreased circulating interleukin-6 level |
increased circulating interleukin-9 level |
decreased circulating tumor necrosis factor level |
increased circulating alanine transaminase level |
increased circulating amylase level |
increased circulating aspartate transaminase level |
cyanosis |
dehydration |
abnormal lipid homeostasis |
abnormal enzyme/coenzyme activity |
|
| Availability | Mouse Genotype | |||||||||||||||||||||
| Gbatm1.1Eginn/Gbatm1.1Eginn | ||||||||||||||||||||||
| Gbatm1Nsb/Gbatm1Nsb | ||||||||||||||||||||||
| Gbatm1Rlp/Gbatm1Rlp | ||||||||||||||||||||||
| Gbatm2.1Eginn/Gbatm2.1Eginn | ||||||||||||||||||||||
| Gbatm2Rlp/Gbatm2Rlp | ||||||||||||||||||||||
| Gbaem1(IMPC)H/Gba+ | ||||||||||||||||||||||
| Gbatm1.1Karl/Gba+ | ||||||||||||||||||||||
| Gbatm1.1Pmis/Gbatm1.1Pmis Tg(Mx1-cre)1Cgn/0 (conditional) |
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| Gbatm1Karl/Gbatm1Karl Tg(Nes-cre)1Kln/? (conditional) |
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| Gbatm2Karl/Gbatm2Karl Tg(KRT14-cre)8Brn/? (conditional) |
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| Gbatm1.1Pmis/Gbatm1.2Pmis Tg(Mx1-cre)1Cgn/0 (conditional) |
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| Gbatm1Clk/Gbatm1.1Clk Tg(Tek-cre)12Flv/0 (conditional) |
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| Gbatm1Clk/Gbatm1.1Clk Tg(EIIa-cre)C5379Lmgd/0 (conditional) |
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| Gbatm1Clk/Gbatm1.1Clk Lyz2tm1(cre)Ifo/Lyz2+ (conditional) |
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| Gbatm1Karl/Gbatm1.1Karl 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 01/17/2023 MGI 6.22 |
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