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Allele : Slc6a1<em2Smoc> solute carrier family 6 (neurotransmitter transporter, GABA), member 1; endonuclease-mediated mutation 2, Shanghai Model Organisms Center

Primary Identifier	MGI:7266429	Allele Type	Endonuclease-mediated
Attribute String	Not Specified	Gene	Slc6a1
Strain of Origin	C57BL/6JSmoc	Is Recombinase	false
Is Wild Type	false

molecularNote

These mice carry a p.S295L mutation in Slc6a1 gene .

mutations:
Nucleotide substitutions

synonyms:
Slc6a1<em2(S295L)Smoc>,
Slc6a1<em2(S295L)Smoc>

earliestPublication:
Lindquist BE, et al. (2023) Patient-derived SLC6A1 variant S295L results in an epileptic phenotype similar to haploinsufficient mice. Epilepsia 64(10):e214-e221

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

4 Publication categories

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