|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 18 (vesicular monoamine), member 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7557 (G1)|
|Chromosomal Location||69037711-69089235 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 69065561 bp|
|Amino Acid Change||Aspartic acid to Valine at position 267 (D267V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046924 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037478]|
|Predicted Effect||probably damaging
AA Change: D267V
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: D267V
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased neuron apoptosis, decreased neuron proliferation and impaired spatial object recognition. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc18a1||
(F):5'- TTTCGAAGGCCATAGGATGC -3'
(R):5'- GTAGAGCTTAGTCCCCAAAGC -3'
(F):5'- GTTATCTGGGATTCTACTAATGGCC -3'
(R):5'- GCTTAGTCCCCAAAGCCTTCAG -3'