About   Help   FAQ
Symbol
Name
ID
Stub1
STIP1 homology and U-Box containing protein 1
MGI:1891731
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Ankle clonus
Dysphagia
Spasticity
Cerebellar hypoplasia
Cerebellar atrophy
Ataxia
Dysmetria
Gait ataxia
Limb ataxia
Truncal ataxia
Parkinsonism
Chorea
Tremor
Babinski sign
Dysarthria
Depression
Irritability
Anxiety
Cognitive impairment
Mental deterioration
Insomnia
Hyperreflexia
Dystonia
Unsteady gait
Bilateral tonic-clonic seizure
Disease(s) Associated with STUB1
autosomal recessive spinocerebellar ataxia 16
cerebellar ataxia type 48

Mouse Phenotypes
abnormal cerebellum morphology
Purkinje cell degeneration
abnormal Purkinje cell dendrite morphology
tau protein deposits
Availability Mouse Genotype
Stub1tm1Atak/Stub1tm1Atak
Stub1tm1Cpat/Stub1tm1Cpat

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/30/2024
MGI 6.23
The Jackson Laboratory