Symbol
Name
ID

Gba1
glucosylceramidase beta 1
MGI:95665

Phenotype annotations related to integument

Darker colors indicate more annotations

Human Phenotypes

Bruising susceptibility

Purpura

Ecchymosis

Petechiae

Desquamation of skin soon after birth

Hyperextensible skin

Abnormality of skin pigmentation

Hyperpigmentation of the skin

Poor wound healing

Skin ulcer

Hyperkeratosis

Ichthyosis

Congenital nonbullous ichthyosiform erythroderma

Disease(s) Associated with GBA1

Gaucher's disease

Gaucher's disease perinatal lethal

Gaucher's disease type I

Gaucher's disease type IIIC

Mouse Phenotypes

skin inflammation

abnormal epidermis stratum corneum morphology

hyperkeratosis

abnormal epidermis stratum granulosum morphology

abnormal epidermis stratum spinosum morphology

thick epidermis

dry skin

pallor

reddish skin

wrinkled skin

abnormal skin condition

abnormal skin turgor

decreased skin turgor

Availability

Mouse Genotype

Gba1^tm1.1Clk/Gba1^tm1.1Clk

Gba1^tm1.1Smoc/Gba1^tm1.1Smoc

Gba1^tm1Ggb/Gba1^tm1Ggb

Gba1^tm1Rlp/Gba1^tm1Rlp

Gba1^tm2Karl/Gba1^tm2Karl

Gba1^tm2Rlp/Gba1^tm2Rlp

Gba1^tm1.1Pmis/Gba1^tm1.1Pmis
Tg(Mx1-cre)1Cgn/0 (conditional)

Gba1^tm1.1Pmis/Gba1^tm1.2Pmis
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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