|
Symbol Name ID |
Naglu
alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) MGI:1351641 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dysphagia |
Spasticity |
Fatigable weakness of swallowing muscles |
Hydrocephalus |
Ventriculomegaly |
Central nervous system degeneration |
Ataxia |
Vocal cord paresis |
Abnormal pyramidal sign |
Delayed speech and language development |
Dysarthria |
Atypical behavior |
Hypersexuality |
Abnormal temper tantrums |
Aggressive behavior |
Disinhibition |
Hyperactivity |
Hyperorality |
Dementia |
Progressive neurologic deterioration |
Intellectual disability |
Intellectual disability, progressive |
Intellectual disability, severe |
Sleep abnormality |
Obstructive sleep apnea |
Hyperactive deep tendon reflexes |
Hyporeflexia |
Gait disturbance |
Loss of ambulation |
Brain imaging abnormality |
Developmental regression |
Motor delay |
Specific learning disability |
Peripheral neuropathy |
Constrictive median neuropathy |
Seizure |
Paresthesia |
Distal sensory impairment |
Impaired vibratory sensation |
Sensory ataxia |
| Disease(s) Associated with NAGLU | ||||||||||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease axonal type 2V | ||||||||||||||||||||||||||||||||||||||||
| mucopolysaccharidosis III | ||||||||||||||||||||||||||||||||||||||||
| mucopolysaccharidosis type IIIB |
| Mouse Phenotypes | decreased cochlear hair cell number |
abnormal midbrain morphology |
abnormal pons morphology |
abnormal diencephalon morphology |
abnormal suprachiasmatic nucleus morphology |
abnormal amygdala morphology |
abnormal cerebral cortex morphology |
abnormal accessory olfactory bulb morphology |
abnormal olfactory bulb morphology |
abnormal Purkinje cell morphology |
Purkinje cell degeneration |
decreased Purkinje cell number |
abnormal cerebellum deep nucleus morphology |
abnormal neuron morphology |
short photoreceptor outer segment |
|
| Availability | Mouse Genotype | |||||||||||||||
| Naglutm1Efn/Naglutm1Efn | ||||||||||||||||
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 05/21/2024 MGI 6.23 |
|
|
|
||
Analysis Tools