Slc6a1-S295L

Nomenclature

C57BL/6Smoc-Slc6a1em2(S295L)Smoc

Cat. NO.

NM-KI-190014

Strain State

Repository Live

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Gene Summary

Gene Symbol
Slc6a1

Synonyms

Gabt; Gat1; XT-1; GAT-1; Gabt1; Xtrp1; GABATR; GABATHG; A730043E01

NCBI ID

232333

MGI ID

95627

Ensembl ID

ENSMUSG00000030310

Pubmed

Slc6a1

Human Ortholog

SLC6A1

Model Description

These mice carry a p.S295L mutation in Slc6a1 gene .
Research Application：Nervous system, Immune system, Genetic epilepsy, Rare disease

Publications 1piece

1. 4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models
Published year：2022-06-06 References：BRAIN COMMUN

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