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Symbol
Name
ID
Gba
glucosidase, beta, acid
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
Abnormality of the skeletal system
Joint stiffness
Delayed skeletal maturation
Avascular necrosis
Bone pain
Increased susceptibility to fractures
Pathologic fracture
Recurrent fractures
Pectus excavatum
Thoracolumbar kyphosis
Thoracic hypoplasia
Vertebral compression fracture
Kyphosis
Scoliosis
Abnormal bone structure
Increased bone mineral density
Osteopenia
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
Gbatm1Rlp/Gbatm1Rlp *
Gbatm1.1Pmis/Gbatm1.1Pmis
Tg(Mx1-cre)1Cgn/0  (conditional)
Gbatm1.1Pmis/Gbatm1.2Pmis
Tg(Mx1-cre)1Cgn/0  (conditional)
Gbatm1Clk/Gbatm1.1Clk
Tg(Tek-cre)12Flv/0  (conditional)
Gbatm1Karl/Gbatm1.1Karl
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
01/24/2023
MGI 6.22
The Jackson Laboratory