Symbol Name ID |
Gba1
glucosylceramidase beta 1 MGI:95665 |
* | 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 |
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Availability | Mouse Genotype | ||||||||
Gba1tm1Rlp/Gba1tm1Rlp | * | ||||||||
Gba1tm1.1Pmis/Gba1tm1.1Pmis Tg(Mx1-cre)1Cgn/0 (conditional) |
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Gba1tm1.1Pmis/Gba1tm1.2Pmis Tg(Mx1-cre)1Cgn/0 (conditional) |
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Gba1tm1Clk/Gba1tm1.1Clk Tg(Tek-cre)12Flv/0 (conditional) |
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Gba1tm1Karl/Gba1tm1.1Karl Tg(Mx1-cre)1Cgn/0 (conditional) |
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 04/09/2024 MGI 6.23 |
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