Symbol
Name
ID

Gba1
glucosylceramidase beta 1
MGI:95665

Phenotype annotations related to cardiovascular system

Darker colors indicate more annotations

Human Phenotypes

Intracranial hemorrhage

Bruising susceptibility

Purpura

Ecchymosis

Petechiae

Cherry red spot of the macula

Bacterial endocarditis

Abnormal heart valve morphology

Aortic valve calcification

Mitral valve calcification

Abnormal myocardium morphology

Abnormal pericardium morphology

Pericardial effusion

Cardiomegaly

Double aortic arch

Calcification of the aorta

Varicose veins

Vascular calcification

Aortic valve stenosis

Mitral regurgitation

Mitral stenosis

Orthostatic hypotension due to autonomic dysfunction

Hypertension

Portal hypertension

Pulmonary arterial hypertension

Cardiac arrest

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

late onset Parkinson's disease

Mouse Phenotypes		abnormal Kupffer cell morphology	abnormal pulmonary circulation	prolonged QRS complex duration
Availability	Mouse Genotype	abnormal Kupffer cell morphology	abnormal pulmonary circulation	prolonged QRS complex duration
	Gba1^tm1Rlp/Gba1^tm1Rlp
	Gba1^tm2Ggb/Gba1^tm2Ggb
	Gba1^tm3Ggb/Gba1^tm3Ggb
	Gba1^tm4Ggb/Gba1^tm4Ggb
	Gba1^em1(IMPC)H/Gba1⁺
	Gba1^tm2Ggb/Gba1^tm1Nsb
	Gba1^tm3Ggb/Gba1^tm1Nsb
	Gba1^tm4Ggb/Gba1^tm1Nsb

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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