|
Symbol Name ID |
Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits MGI:3643902 |
| Darker colors indicate more annotations |
| Human Phenotypes | Prominent occiput |
Craniofacial hyperostosis |
Craniosynostosis |
Thickened calvaria |
Trigonocephaly |
Micrognathia |
Mandibular prognathia |
J-shaped sella turcica |
Large sella turcica |
Premature anterior fontanel closure |
Soft tissue swelling of interphalangeal joints |
Bullet-shaped phalanges of the hand |
Coxa valga |
Metaphyseal widening |
Varus deformity of humeral neck |
Carpal bone hypoplasia |
Split hand |
Flat acetabular roof |
Shallow acetabular fossae |
Hip dislocation |
Hip subluxation |
Irregular carpal bones |
Arthrogryposis multiplex congenita |
Camptodactyly |
Limitation of joint mobility |
Joint stiffness |
Pathologic fracture |
Short long bone |
Abnormal hip bone morphology |
Flared iliac wing |
Large iliac wing |
Hypoplastic inferior ilia |
Hip dysplasia |
Abnormal rib cage morphology |
Short ribs |
Broad ribs |
Hypoplastic scapulae |
Pectus excavatum |
Thoracolumbar kyphoscoliosis |
Hyperlordosis |
Kyphosis |
Scoliosis |
Lumbar scoliosis |
Hypoplasia of the odontoid process |
Abnormal form of the vertebral bodies |
Beaking of vertebral bodies T12-L3 |
Ovoid vertebral bodies |
Lower thoracic interpediculate narrowness |
Atlantoaxial dislocation |
Spondylolisthesis |
Reduced bone mineral density |
Osteopenia |
Dysostosis multiplex |
| Disease(s) Associated with GNPTAB | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| mucolipidosis II alpha/beta | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| mucolipidosis III alpha/beta |
| Mouse Phenotypes | impaired osteoblast differentiation |
increased osteoclast cell number |
abnormal osteoclast physiology |
abnormal skeleton morphology |
abnormal long bone diaphysis morphology |
abnormal spine curvature |
kyphosis |
short vertebral column |
decreased bone mineral content |
decreased bone mineral density |
decreased trabecular bone volume |
abnormal compact bone morphology |
abnormal osteoblast morphology |
decreased osteoblast cell number |
abnormal osteocyte morphology |
decreased bone mass |
osteoporosis |
abnormal chondrocyte morphology |
abnormal skeleton development |
abnormal epiphyseal plate morphology |
increased bone resorption |
|
| Availability | Mouse Genotype | |||||||||||||||||||||
| GnptabGt(OST97730)Lex/GnptabGt(OST97730)Lex | ||||||||||||||||||||||
| Gnptabnym/Gnptabnym | ||||||||||||||||||||||
| Gnptabtm1Dkji/Gnptabtm1Dkji | ||||||||||||||||||||||
| Gnptabtm1Kkol/Gnptabtm1Kkol | ||||||||||||||||||||||
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 04/23/2024 MGI 6.23 |
|
|
|
||
Analysis Tools