Locus Rank
27

Gene

Id
170
Gene Name
SLC32A1
Duplicated
False
Maternal
False
Gene Not Within Locus (Nearby
False
Gene Description
Mouse Phenotype
Homozygous null mice been independently reported to die perinatally exhibiting a hunched posture, respiratory failure, cleft secondary palate due to failure of palate shelf elevation, umbilical hernia or omphalocele, and loss of neurotransmitter release in both GABAergic and glycinergic neurons.
Additional Image
Allen Brain
Allen Regions
Zfin In Situ
Zfin Brain Areas
Published Zebrafish Pehnotype
Not In Allen Brain
False
ZFIN Link
http://zfin.org/ZDB-GENE-061201-1
Allen Link
http://mouse.brain-map.org/experiment/show/72081554
More Additional Images
Papers
http://www.ncbi.nlm.nih.gov/pubmed/12638124

Locus Rank

Locus Rank
27
Genes in Region
ACTR5 PPP1R16B SLC32A1 FAM83D DHX35
Associated Snps
rs6065094
GWAS Region (hg19)
chr20:37361494-37485994
Genes Skipping
ACTR5 - not in brain at all, DNA repair; FAM83D - mitosis, cancer, not in zebrafish brain; DHX35 - likely RNA helicase, not in allen brain
Ricopili Plot Surrounding Area
Distance On Each Side Of Locus In Above Plot
1 MB
Ricopili Plot
Gwas And Surrounding Region Pic
Gwas Region Pic
Genes In Locus Rank
SLC32A1
PPP1R16B

Sequence 1

Ensembl Gene Name
slc32a1
Harvard Allele
a332
Mutation Area - WT DNA Sequence
CCAACGCGGCCACTACCGTCACCAATAAGTCGCAGGCGAAGGTGAGCGGGATGTTCGCCAGACTGGGCTTCCAGGCCGCCACCGATGAGGAGGCTTTGGGTTTCGCCGCCTGCGATGATCTGGACTATGACCACAGGCAGGGGCTTCAAATGGACATCCTAAAAAACGATGAGATGGGGGGAGAGGGCGGCGGGGAAATGGGGGAAGATGGGATGGCCGAAGGGGACAGCCATTACCAGAGGGATGGAACGGGTCCACCGCCCTCAGCATCCAAAGACGGGGGACTTTGCTCCGAAATTGGCAACCCGGACAAGCCCAGAATCACTGCTTGGGAAGCGGGCTGGAACGTGACCAACGCGATCCAGgtaaaggcgcatcgtcaggcgtcacgcgtcatggcgatgcatagctgtgaa
Mutation Area - Mutant DNA Sequence
CCAACGCGGCCACTACCGTCACCAATAAGTCGCAGGCGAAGGTGAGCGGGATGTTCGCCAGACTGGGCTTCCGGGCCGCCACCGATGAGAAGGCTTTGGGTTTCGCCGCCTGCGATGATCTGGACTATGACCACAGGGGCTTCAAATGGACATCCTAAAAAACGATGAGATGGGGGGAGAGGGCGGCGGGGAAATGGGGGAAGATGGGATGGCCGAAGGGGACAGCCATTACCAGAGGGATGGAACGGGTCCACCGCCCTCAGCATCCAAAGACGGGGGACTTTGCTCCGAAATTGGCAACCCGGACAAGCCCAGAATCACTGCTTGGGAAGCGGGCTGGAACGTGACCAACGCGATCCAGgtaaaggcgcatcgtcaggcgtcacgcgtcatggcgatgcatagctgtgaa
Guide RNA Target Sites
CACCAATAAGTCGCAGGCGAAGG
TGGACTATGACCACAGGCAGGGG
CAGAATCACTGCTTGGGAAGCGG
GAACGTGACCAACGCGATCCAGg
Genotyping Primers
f, CTGCGATGATCTGGACTATGACC
r, CCATTTCCCCGCCGCCCTCTC
Alignment of WT and Mutant Sequences w/ gRNA Targets (cyan) and Genotyping Primers (pink) Shown on WT Sequence
Allele
4bpD
WT Genotyping Size
92
WT Protein Sequence
MATLIRSKISNKLSNAATTVTNKSQAKVSGMFARLGFQAATDEEALGFAACDDLDYDHRQ
GLQMDILKNDEMGGEGGGEMGEDGMAEGDSHYQRDGTGPPPSASKDGGLCSEIGNPDKPR
ITAWEAGWNVTNAIQGMFVLGLPYAILHGGYLGLFLIIFAAVVCCYTGKILIACLYEENE
DGQLVRVRDSYVDIANACCAPRFPALGGHVVNVAQIIELVMTCILYVVVSGNLMYNSFPT
LPVSQRSWAIIATAALLPCAFLKNLKAVSKFSLLCTLAHFVINILVIAYCLSRARDWAWD
KVKFYIDVKKFPISIGIIVFSYTSQIFLPSLEGNMQKPSEFHCMMNWTHIAACILKGLFA
LVAYLTWADETKEVITDNLPSSIRAVVNLFLVSKALLSYPLPFFAAVEVLEKTFFQDGGR
AFFPDCYGGDGRLKSWGLSLRCALVVFTMLMAIYVPHFALLMGLTGSLTGAGLCFLLPSL
FHLKLLWRKLLWHQVFFDVAIFVIGGICSISGFIHSVEGLIEAYKYNLPD-
Mutant Protein Sequence
MATLIRSKISNKLSNAATTVTNKSQAKVSGMFARLGFRAATDEKALGFAACDDLDYDHRGFKWTS-
Mutant Genotyping Size
88
Ribosome Profiling Development
Transcript Plot

Behavior Data

Behavior Data Summary
None
Behavior Data Description 1
Dark flash block 1 start Merged section Pvalue = not significant 26 wt vs 35 het ribgraph_mean_ribbon_fullboutdata_dpix_a0darkflash103.png
Behavior Data Graph 1
Behavior Data Description 2
Day all prepulse tap Merged section Pvalue = not significant 26 wt vs 35 het ribgraph_mean_ribbon_fullboutdata_dpix_dayprepulseinhibition100d.png
Behavior Data Graph 2
Behavior Data Description 3
Features of movement entire protocol Graph Pvalue = not significant Merged section Pvalue = not significant 33 wt vs 40 het ribgraph_mean_ribbonbout_aveboutdisp_10min_combo.png
Behavior Data Graph 3
Behavior Data Description 4
Frequency of movement entire protocol Graph Pvalue = not significant Merged section Pvalue = not significant 26 wt vs 35 het ribgraph_mean_ribbonbout_dpixnumberofbouts_10min_combo.png
Behavior Data Graph 4
Behavior Data Description 5
Location in well entire protocol Graph Pvalue = not significant Merged section Pvalue = not significant 26 wt vs 35 het ribgraph_mean_ribbonbout_averhofrac_10min_combo.png
Behavior Data Graph 5
Behavior Data Description 6
Tap habituation Graph Pvalue = 0.0179 26 wt vs 35 het boxgraph_pd__ribgraph_mean_ribbon_slowfullboutdatamax_dist_cdaytaphab1.png
Behavior Data Graph 6
Behavior Data Description 7
None
Behavior Data Graph 7
None
Behavior Data Description 8
None
Behavior Data Graph 8
None
Behavior Data Description 9
None
Behavior Data Graph 9
None
Behavior Data Description 10
None
Behavior Data Graph 10
None
Behavior Data Description 11
None
Behavior Data Graph 11
None
Behavior Data Description 12
None
Behavior Data Graph 12
None
Behavior Data Description 13
None
Behavior Data Graph 13
None
Behavior Data Description 14
None
Behavior Data Graph 14
None