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Symbol
Name
ID

Szt2
SZT2 subunit of KICSTOR complex
MGI:3033336

Phenotype annotations related to nervous system

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

Human Phenotypes

Thick corpus callosum

EEG abnormality

Absent speech

Hyporeflexia

Epileptic encephalopathy

Profound global developmental delay

Bilateral tonic-clonic seizure with focal onset

Generalized non-motor (absence) seizure

Atypical absence seizure

Focal-onset seizure

Generalized-onset seizure

Tonic seizure

Disease(s) Associated with SZT2

developmental and epileptic encephalopathy 18

Mouse Phenotypes		nervous system phenotype	increased susceptibility to pharmacologically induced seizures	abnormal kindling response	maximal tonic hindlimb extension seizures	minimal clonic seizures	tonic-clonic seizures
Availability	Mouse Genotype	nervous system phenotype		abnormal kindling response	maximal tonic hindlimb extension seizures	minimal clonic seizures	tonic-clonic seizures
	Szt2^Gt(XH662)Byg/Szt2^Gt(XH662)Byg
	Szt2^m1Frk/Szt2^m1Frk	*
	Szt2^Gt(XH662)Byg/Szt2⁺
	Szt2^Gt(XH662)Byg/Szt2^m1Frk

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)
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