|
Symbol Name ID |
Slc12a5
solute carrier family 12, member 5 MGI:1862037 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Secondary microcephaly |
Delayed CNS myelination |
Cerebral atrophy |
Abnormal pyramidal sign |
Intellectual disability |
Inability to walk |
Developmental regression |
Global developmental delay |
Seizure |
Bilateral tonic-clonic seizure |
Bilateral tonic-clonic seizure with focal onset |
Generalized non-motor (absence) seizure |
Focal-onset seizure |
Focal hemiclonic seizure |
Generalized myoclonic seizure |
Febrile seizure (within the age range of 3 months to 6 years) |
Status epilepticus |
| Disease(s) Associated with SLC12A5 | |||||||||||||||||
| developmental and epileptic encephalopathy 34 | |||||||||||||||||
| idiopathic generalized epilepsy 14 |
| Mouse Phenotypes | nervous system phenotype |
increased susceptibility to pharmacologically induced seizures |
tonic-clonic seizures |
abnormal brain interneuron morphology |
abnormal Purkinje cell morphology |
abnormal cerebellar granule cell morphology |
abnormal neuron morphology |
abnormal dendritic spine morphology |
abnormal synapse morphology |
abnormal central pattern generator function |
abnormal nervous system electrophysiology |
abnormal action potential |
impaired ability to fire action potentials |
abnormal summary potential |
abnormal somatic nervous system physiology |
abnormal GABA-mediated receptor currents |
abnormal miniature excitatory postsynaptic currents |
|
| Availability | Mouse Genotype | |||||||||||||||||
| Slc12a5tm1Dlp/Slc12a5tm1Dlp | ||||||||||||||||||
| Slc12a5tm1Hsav/Slc12a5tm1Hsav | ||||||||||||||||||
| Slc12a5tm1Tjj/Slc12a5tm1Tjj | ||||||||||||||||||
| Slc12a5tm2Hsav/Slc12a5tm2Hsav | ||||||||||||||||||
| Slc12a5tm1Dlp/Slc12a5+ | ||||||||||||||||||
| Slc12a5tm1Hsav/Slc12a5tm2Hsav | * | |||||||||||||||||
| Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj Tg(Pcp2-cre)2Mpin/0 (conditional) |
* | |||||||||||||||||
| Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj Gabra6tm2(cre)Wwis/Gabra6+ (conditional) |
* | |||||||||||||||||
| Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj Gabra6tm2(cre)Wwis/Gabra6+ Tg(Pcp2-cre)2Mpin/0 (conditional) |
* | |||||||||||||||||
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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last database update 04/23/2024 MGI 6.23 |
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