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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Gba1
glucosylceramidase beta 1
MGI:95665
112 phenotypes from 19 alleles in 19 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Gba1em1(IMPC)H/Gba1+
C57BL/6N-Gba1em1(IMPC)H/H 		increased circulating amylase level J:211773
increased mean platelet volume J:211773
prolonged QRS complex duration J:211773
Gba1em1(IMPC)H/Gba1em1(IMPC)H
C57BL/6N-Gba1em1(IMPC)H/H 		abnormal craniofacial morphology J:211773
preweaning lethality, complete penetrance J:211773
Gba1tm1.1Clk/Gba1tm1.1Clk
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J 		aphagia J:117763
neonatal lethality, complete penetrance J:117763
reddish skin J:117763
wrinkled skin J:117763
Gba1tm1.1Eginn/Gba1tm1.1Eginn
involves: 129X1/SvJ * C57BL/6 		abnormal enzyme/coenzyme activity J:211953
abnormal striatum morphology J:211953
alpha-synuclein inclusion body J:211953
astrocytosis J:211953
Gba1tm1.1Karl/Gba1+
involves: 129S1/Sv * 129X1/SvJ 		abnormal enzyme/coenzyme activity J:113751
Gba1tm1.1Karl/Gba1tm1.1Karl
involves: 129S1/Sv * 129X1/SvJ 		neonatal lethality, complete penetrance J:113751
Gba1tm1.1Mjff/Gba1+
C57BL/6NTac-Gba1tm1.1Mjff 		no abnormal phenotype detected J:101977
Gba1tm1.1Pmis/Gba1tm1.1Pmis
Tg(Mx1-cre)1Cgn/0
involves: C57BL/6 * CBA 		abnormal circulating chemokine level J:167081
abnormal circulating cytokine level J:167081
abnormal osteoblast differentiation J:167081
abnormal skeleton physiology J:167081
abnormal T cell differentiation J:167081
abnormal thymus morphology J:167081
abnormal trabecular bone morphology J:167081
decreased body size J:167081
decreased bone mineral density J:167081
decreased bone ossification J:167081
decreased circulating HDL cholesterol level J:167081
decreased circulating interleukin-1 alpha level J:167081
decreased circulating interleukin-1 beta level J:167081
decreased circulating interleukin-6 level J:167081
decreased circulating tumor necrosis factor level J:167081
decreased double-positive T cell number J:167081
decreased hemoglobin content J:167081
enlarged liver J:167081
enlarged spleen J:167081
extramedullary hematopoiesis J:167081
increased circulating aspartate transaminase level J:167081
increased circulating interferon-gamma level J:167081
increased circulating interleukin-2 level J:167081
increased circulating interleukin-3 level J:167081
increased circulating interleukin-9 level J:167081
increased circulating interleukin-10 level J:167081
increased circulating interleukin-13 level J:167081
increased liver weight J:167081
kyphosis J:167081
pallor J:167081
spleen hyperplasia J:167081
Gba1tm1.1Pmis/Gba1tm1.2Pmis
Tg(Mx1-cre)1Cgn/0
involves: C57BL/6 * CBA 		abnormal circulating chemokine level J:167081
abnormal circulating cytokine level J:167081
abnormal osteoblast differentiation J:167081
abnormal skeleton physiology J:167081
abnormal T cell differentiation J:167081
abnormal thymus morphology J:167081
abnormal trabecular bone morphology J:167081
decreased body size J:167081
decreased bone mineral density J:167081
decreased bone ossification J:167081
decreased circulating HDL cholesterol level J:167081
decreased circulating interleukin-1 alpha level J:167081
decreased circulating interleukin-1 beta level J:167081
decreased circulating interleukin-6 level J:167081
decreased circulating tumor necrosis factor level J:167081
decreased double-positive T cell number J:167081
decreased hemoglobin content J:167081
enlarged liver J:167081
enlarged spleen J:167081
extramedullary hematopoiesis J:167081
increased circulating aspartate transaminase level J:167081
increased circulating interferon-gamma level J:167081
increased circulating interleukin-2 level J:167081
increased circulating interleukin-3 level J:167081
increased circulating interleukin-9 level J:167081
increased circulating interleukin-10 level J:167081
increased circulating interleukin-13 level J:167081
increased liver weight J:167081
kyphosis J:167081
pallor J:167081
spleen hyperplasia J:167081
Gba1tm1.1Smoc/Gba1tm1.1Smoc
involves: C57BL/6J 		abnormal epidermis stratum corneum morphology J:325557
abnormal epidermis stratum granulosum morphology J:325557
abnormal epidermis stratum spinosum morphology J:325557
abnormal skin turgor J:325557
decreased body size J:325557
postnatal lethality, complete penetrance J:325557
reddish skin J:325557
wrinkled skin J:325557
Gba1tm1Clk/Gba1tm1.1Clk
Lyz2tm1(cre)Ifo/Lyz2+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J 		abnormal enzyme/coenzyme activity J:117763
Gba1tm1Clk/Gba1tm1.1Clk
Tg(EIIa-cre)C5379Lmgd/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N 		abnormal enzyme/coenzyme activity J:117763
Gba1tm1Clk/Gba1tm1.1Clk
Tg(Tek-cre)12Flv/0
involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J 		abnormal bone marrow morphology J:117763
abnormal enzyme/coenzyme activity J:117763
abnormal liver morphology J:117763
abnormal macrophage morphology J:117763
abnormal spleen morphology J:117763
increased spleen weight J:117763
Gba1tm1Ggb/Gba1tm1Ggb
involves: 129S5/SvEvBrd * C57BL/6 		abnormal skin condition J:86334
dry skin J:86334
perinatal lethality, complete penetrance J:86334
wrinkled skin J:86334
Gba1tm1Karl/Gba1tm1.1Karl
Tg(Mx1-cre)1Cgn/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA 		abnormal bone marrow morphology J:113751
abnormal enzyme/coenzyme activity J:113751
abnormal immune system organ morphology J:113751
abnormal response to transplant J:113751
abnormal spleen morphology J:113751
decreased hematocrit J:113751
decreased hemoglobin content J:113751
decreased mean corpuscular volume J:113751
enlarged liver J:113751
enlarged spleen J:113751
intermingled spleen red and white pulp J:113751
pale liver J:113751
Gba1tm1Karl/Gba1tm1Karl
Tg(Nes-cre)1Kln/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL 		abnormal brain morphology J:127108
abnormal gait J:127108
abnormal lipid homeostasis J:127108
abnormal microglial cell morphology J:127108
astrocytosis J:127108
neuron degeneration J:127108
paralysis J:127108
premature death J:127108
seizures J:127108
Gba1tm1Nsb/Gba1tm1Nsb
involves: 129S/SvEv * C57BL/6 		abnormal food intake J:1100
abnormal macrophage morphology J:1100
abnormal respiration J:1100
akinesia J:1100
cyanosis J:1100
decreased birth weight J:1100
perinatal lethality J:1100
Gba1tm1Rlp/Gba1tm1Rlp
involves: 129S4/SvJae 		hyperkeratosis J:46243
postnatal lethality, complete penetrance J:46243
reddish skin J:46243
wrinkled skin J:46243
Gba1tm1Rlp/Gba1tm1Rlp
involves: 129S4/SvJae * C57BL/6 		abnormal enzyme/coenzyme activity J:76409
abnormal inflammatory response J:76409
abnormal Kupffer cell morphology J:76409
abnormal lymph node morphology J:76409
abnormal macrophage morphology J:76409
abnormal spleen physiology J:76409
anemia J:76409
decreased body weight J:76409
decreased circulating cholesterol level J:76409
decreased erythrocyte cell number J:76409
decreased hematocrit J:76409
decreased hemoglobin content J:76409
decreased leukocyte cell number J:76409
decreased survivor rate J:76409
enlarged liver J:76409
hyperkeratosis J:76409
increased circulating alanine transaminase level J:76409
increased circulating aspartate transaminase level J:76409
increased hepatocyte apoptosis J:76409
increased IgG level J:76409
increased liver weight J:76409
increased spleen weight J:76409
lipofuscinosis J:76409
liver inflammation J:76409
lung inflammation J:76409
lymph node inflammation J:76409
postnatal lethality, incomplete penetrance J:76409
normal skeleton phenotype J:76409
skin inflammation J:76409
thick epidermis J:76409
Gba1tm2.1Eginn/Gba1tm2.1Eginn
involves: 129X1/SvJ * C57BL/6 		abnormal enzyme/coenzyme activity J:211953
abnormal striatum morphology J:211953
alpha-synuclein inclusion body J:211953
astrocytosis J:211953
Gba1tm2Ggb/Gba1tm1Nsb
involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 		abnormal liver physiology J:86334
abnormal pulmonary circulation J:86334
abnormal spleen morphology J:86334
Gba1tm2Ggb/Gba1tm2Ggb
involves: 129S5/SvEvBrd * C57BL/6 		abnormal liver physiology J:86334
abnormal pulmonary circulation J:86334
abnormal spleen morphology J:86334
Gba1tm2Karl/Gba1tm2Karl
involves: 129S1/Sv * 129X1/SvJ 		abnormal skin condition J:127108
neonatal lethality, complete penetrance J:127108
Gba1tm2Karl/Gba1tm2Karl
Tg(KRT14-cre)8Brn/?
involves: 129S1/Sv * 129X1/SvJ * FVB/N 		abnormal brain morphology J:127108
abnormal gait J:127108
abnormal lipid homeostasis J:127108
abnormal macrophage morphology J:127108
abnormal neuron morphology J:127108
decreased brain size J:127108
decreased cerebral cortex pyramidal cell number J:127108
decreased Purkinje cell number J:127108
hippocampal neuron degeneration J:127108
paralysis J:127108
postnatal lethality J:127108
seizures J:127108
Gba1tm2Rlp/Gba1tm2Rlp
involves: 129S4/SvJae 		absent gastric milk in neonates J:46243
decreased birth body size J:46243
decreased skin turgor J:46243
dehydration J:46243
hyperkeratosis J:46243
postnatal lethality, complete penetrance J:46243
reddish skin J:46243
wrinkled skin J:46243
Gba1tm3Ggb/Gba1tm1Nsb
involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 		abnormal liver physiology J:86334
abnormal pulmonary circulation J:86334
abnormal spleen morphology J:86334
Gba1tm3Ggb/Gba1tm3Ggb
involves: 129S5/SvEvBrd 		abnormal brain morphology J:174780
abnormal liver physiology J:86334
abnormal pulmonary circulation J:86334
abnormal spleen morphology J:86334
Gba1tm4Ggb/Gba1tm1Nsb
involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6 		abnormal liver physiology J:86334
abnormal pulmonary circulation J:86334
abnormal spleen morphology J:86334
Gba1tm4Ggb/Gba1tm4Ggb
involves: 129S5/SvEvBrd * C57BL/6 		abnormal liver physiology J:86334
abnormal pulmonary circulation J:86334
abnormal spleen morphology J:86334
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory