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Symbol
Name
ID
Gba1
glucosylceramidase beta 1
MGI:95665
Phenotype annotations related to homeostasis/metabolism
Darker colors indicate more annotations
Human Phenotypes
Polyclonal elevation of IgM
Increased circulating antibody level
Decreased HDL cholesterol concentration
Elevated circulating C-reactive protein concentration
Increased circulating ferritin concentration
Elevated circulating CCL18 level
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
Gba1tm1.1Eginn/Gba1tm1.1Eginn
Gba1tm1Nsb/Gba1tm1Nsb
Gba1tm1Rlp/Gba1tm1Rlp
Gba1tm2.1Eginn/Gba1tm2.1Eginn
Gba1tm2Rlp/Gba1tm2Rlp
Gba1em1(IMPC)H/Gba1+
Gba1tm1.1Karl/Gba1+
Gba1tm1.1Pmis/Gba1tm1.1Pmis
Tg(Mx1-cre)1Cgn/0  (conditional)
Gba1tm1Karl/Gba1tm1Karl
Tg(Nes-cre)1Kln/?  (conditional)
Gba1tm2Karl/Gba1tm2Karl
Tg(KRT14-cre)8Brn/?  (conditional)
Gba1tm1.1Pmis/Gba1tm1.2Pmis
Tg(Mx1-cre)1Cgn/0  (conditional)
Gba1tm1Clk/Gba1tm1.1Clk
Tg(Tek-cre)12Flv/0  (conditional)
Gba1tm1Clk/Gba1tm1.1Clk
Tg(EIIa-cre)C5379Lmgd/0  (conditional)
Gba1tm1Clk/Gba1tm1.1Clk
Lyz2tm1(cre)Ifo/Lyz2+  (conditional)
Gba1tm1Karl/Gba1tm1.1Karl
Tg(Mx1-cre)1Cgn/0  (conditional)

Contributing Projects:
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
04/16/2024
MGI 6.23
The Jackson Laboratory