About Help FAQ

Symbol
Name
ID

Cstb
cystatin B
MGI:109514

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Ataxia	Myoclonus	Interictal epileptiform activity	EEG with spike-wave complexes	EEG with polyspike wave complexes	Dysarthria	Mental deterioration	Dementia	Intellectual disability, mild	Bilateral tonic-clonic seizure	Generalized non-motor (absence) seizure
Disease(s) Associated with CSTB
progressive myoclonus epilepsy 1A

Mouse Phenotypes		nervous system phenotype	seizures	myoclonus	abnormal cerebellum morphology	abnormal cerebellar granule cell morphology	cerebellum hypoplasia	abnormal nervous system physiology	abnormal brain wave pattern
Availability	Mouse Genotype	nervous system phenotype	seizures	myoclonus	abnormal cerebellum morphology	abnormal cerebellar granule cell morphology	cerebellum hypoplasia	abnormal nervous system physiology	abnormal brain wave pattern
	Cstb^tm1Rm/Cstb^tm1Rm
	Cstb^tm1Yah/Cstb^tm1Yah	*
	Cstb^tm1Yah/Cstb⁺	*

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 05/28/2024 MGI 6.13