|
Symbol Name ID |
Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits MGI:3643902 |
| Darker colors indicate more annotations |
| Human Phenotypes | Cerebral cortical atrophy |
Thin corpus callosum |
Myelopathy |
Cognitive impairment |
Intellectual disability |
Hyporeflexia |
Tip-toe gait |
Global developmental delay |
Severe global developmental delay |
Delayed ability to walk |
Specific learning disability |
Constrictive median neuropathy |
Motor polyneuropathy |
Sensory neuropathy |
| Disease(s) Associated with GNPTAB | ||||||||||||||
| mucolipidosis II alpha/beta | ||||||||||||||
| mucolipidosis III alpha/beta |
| Mouse Phenotypes | brain inflammation |
decreased brain size |
abnormal cerebellum white matter morphology |
abnormal hippocampus CA1 region morphology |
abnormal hippocampus CA3 region morphology |
abnormal cerebellar cortex morphology |
Purkinje cell degeneration |
Purkinje cell axonal dystrophy |
abnormal cerebellar molecular layer |
cerebellum atrophy |
brain atrophy |
astrocytosis |
retina photoreceptor degeneration |
axonal spheroids |
demyelination |
|
| Availability | Mouse Genotype | |||||||||||||||
| GnptabGt(OST97730)Lex/GnptabGt(OST97730)Lex | ||||||||||||||||
| Gnptabnym/Gnptabnym | ||||||||||||||||
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 04/16/2024 MGI 6.23 |
|
|
|
||
Analysis Tools