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Symbol
Name
ID

Gba1
glucosylceramidase beta 1
MGI:95665

Phenotype annotations related to skeleton

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Brachycephaly

Micrognathia

Retrognathia

Trismus

Microcephaly

Hallux valgus

Erlenmeyer flask deformity of the femurs

Aortic valve calcification

Mitral valve calcification

Calcification of the aorta

Vascular calcification

Osteomyelitis

Flexion contracture

Arthrogryposis multiplex congenita

Joint stiffness

Delayed skeletal maturation

Avascular necrosis

Bone pain

Increased susceptibility to fractures

Pathologic fracture

Recurrent fractures

Abnormality of the skeletal system

Pectus excavatum

Thoracolumbar kyphosis

Thoracic hypoplasia

Scoliosis

Vertebral compression fracture

Abnormal bone structure

Increased bone mineral density

Osteopenia

Osteoporosis

Osteolysis

Osteoarthritis

Joint dislocation

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

Mouse Phenotypes		skeleton phenotype	abnormal osteoblast differentiation	kyphosis	abnormal bone marrow morphology	decreased bone mineral density	abnormal trabecular bone morphology	abnormal skeleton physiology	decreased bone ossification
Availability	Mouse Genotype	skeleton phenotype	abnormal osteoblast differentiation	kyphosis	abnormal bone marrow morphology	decreased bone mineral density	abnormal trabecular bone morphology	abnormal skeleton physiology	decreased bone ossification
	Gba1^tm1Rlp/Gba1^tm1Rlp	*
	Gba1^tm1.1Pmis/Gba1^tm1.1Pmis Tg(Mx1-cre)1Cgn/0 (conditional)
	Gba1^tm1.1Pmis/Gba1^tm1.2Pmis Tg(Mx1-cre)1Cgn/0 (conditional)
	Gba1^tm1Clk/Gba1^tm1.1Clk Tg(Tek-cre)12Flv/0 (conditional)
	Gba1^tm1Karl/Gba1^tm1.1Karl 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/09/2024 MGI 6.23