Gene
Gene Not Within Locus (Nearby
False
Mouse Phenotype
Death, etc
Published Zebrafish Pehnotype
ZFIN Link
http://zfin.org/ZDB-GENE-040426-1081
Allen Link
http://mouse.brain-map.org/gene/show/16890
Locus Rank
Genes in Region
MAD1L1 (only gene in locus), and CHST12, SNX8, FTSJ2, EIF3B, NUDT1, and ELFN1 nearby locus.
GWAS Region (hg19)
chr7:1896096-2190096
Genes Skipping
SNX8 - no brain expression, seems unlikely based on pubmed; NUDT1 - also not allen brain, and nothing about neurons in any paper; FTSJ2 - cell cycle, dna repair; EIF3B - essential roles in protein synthesis
Ricopili Plot Surrounding Area

Distance On Each Side Of Locus In Above Plot
0.5 MB
Ricopili Plot

Gwas And Surrounding Region Pic

Gwas Region Pic

Sequence 1
Mutation Area - WT DNA Sequence
tctttgttgttaacagGAAGTTTCAGGACATCAGTCAGAAGTACCAAAATCTGCAGTCCTCTCATTCAACCAGCACAGAGAGCGAACTCAAGATGAAGgtatttttgtttcagtctttttctcaatttcggtggattttggagcactaagggatgtctgaagtactggtgctcgagtgtcaagtctagactaaaataaagcttgtattagcatcatgaaattggcttgtatttgtgctcagcttggtcttatttgtgctgtccatctgcagGAGTTGGAGAGGCGTTTGGCTCTTCAGGAACAGGACTCCGTGATTGTGAAGAACATGAAATCTGAAGTGGCCAGACTGCCTGAAATGGAGCGGGAAATTAAACGTCTGCGTGAGGAAAACTCTTTCTTAAGgtatccgcattcactgtcagactttttccctgatgcatgcctaatgtatatttagcacgtcttcaactgtctttcaaaagGGAGACAAAAGAGAACAACAGTTTGCTGAAGGAAGAGACCGAGGGCTTGAGGAGGAAGCTGGAGAGGCTGGAGAAAGTGATGGAGGAGAAAATCAAAGTGGAGTTGGAGAAAGAGgtaaacggt
Mutation Area - Mutant DNA Sequence
tctttgttgttaacagGAAGTTTCAGGACATCAGTCAGAAGTACCAAAATCTGCAGTCCTCTGCAGGCGTTTGGCTCTTCAGGAACAGGACTCCGTGATTGTGAAGAACATGAAATCTGAAGTGGCCAGACTGCCTGAAATGGGAAATTAAACGTCTGCGTGAGGAAAACTCTTTCTTAAGGTATCCGCATTCACTGTCAGACTTTTTCCCTGATGCATGCCTAATGTATATTTAGCACGTCTTCGACTGTCTTTCAAAAGGGAGACAAAAGAGAACAACAGTTTGCTGAAGGAAGAGACCGAGGGCTTGAGGAGAGGCTGGAGAAAGTGATGGAGGAGAAAATCAAAGTGGAGTTGGAGAAAGAGgtaaacggttgcaaaatgtgcaattaaataggtagttcaaccttagatgaatgttctgttgttatttaatcaacctttacttgttcaaagcttatttgagttgaacacaaaagaaagtatttcgaaaaaaatgctggttgttagtgtctatcgaggtcta
Guide RNA Target Sites
CTCTGTGCTGGTTGAATGAGAGG
tccatctgcagGAGTTGGAGAGG
CAGACTGCCTGAAATGGAGCGGG
GCTTGAGGAGGAAGCTGGAGAGG
Genotyping Primers
f, tctttgttgttaacagGAAGTTTCAGGACATC
r, accgtttacCTCTTTCTCCAACTCCAC
Alignment of WT and Mutant Sequences w/ gRNA Targets (cyan) and Genotyping Primers (pink) Shown on WT Sequence

WT Protein Sequence
MDDIEDDTTIFSTLKSFKSLISCPERSLLETEPAYGRSDLQKLYTKRVELEEAAERVRSH
TSLIQLTQEKQQMELSHKRARIELEKEAHSSSRDLQREIDRNRDLQMKIRRLEEREEKAN
QALNEQMENNKALKRNLEELHKKANEKDSKLTEAEQIISELKDETRRLGQQIQIQESKFS
TQNLEIQALQEQLDVQRKKFQDISQKYQNLQSSHSTSTESELKMKELERRLALQEQDSVI
VKNMKSEVARLPEMEREIKRLREENSFLRRETKENNSLLKEETEGLRRKLERLEKVMEEK
IKVELEKEKMERELQAWENIGQATGLNIRKPEDLSREVIQIQQRELNFKQQNYSLNSSVR
SVEKARSELLTEIAQLRAKAQEEQKKRENQDSLVRRLQKRVLLLTKERDGMRAILESYDS
ELATSEYSPQLTLRVKEAEDMLQKVQAHNAEMETQLSKAQEEAGSFKLQAQMVAAELEAL
KEQQVSNAERSSSVTAEEISSLRQKIEELEAERQRLEEQNNILEMRLERHNLQGDYDPVK
TKVVHLQMNPTSMAKQQRADEVEQLRVECQRLRDRLRKIEVAGGMTTDDTTLIIPPSQEI
LDLRKQMESAELKNQRLKEVFQKKIQEFRTACYVLTGYQIDITVENQYRLTSVYAEHMED
SLLFKSTGPVGSGSMQLLETDFSRTLTGLVDLHLFHQKSIPVFLSAVTIELFSRQTVA-
Mutant Protein Sequence
MDDIEDDTTIFSTLKSFKSLISCPERSLLETEPAYGRSDLQKLYTKRVELEEAAERVRSH
TSLIQLTQEKQQMELSHKRARIELEKEAHSSSRDLQREIDRNRDLQMKIRRLEEREEKAN
QALNEQMENNKALKRNLEELHKKANEKDSKLTEAEQIISELKDETRRLGQQIQIQESKFS
TQNLEIQALQEQLDVQRKKFQDISQKYQNLQSSAGVWLFRNRTP-
Mutant Genotyping Size
536
Ribosome Profiling Development

Transcript Plot

Behavior Data
Behavior Data Summary
None
Behavior Data Description 1
Dark flash block 1 start Merged section Pvalue = 0.0316 47 hetandwt vs 16 hom ribgraph_mean_ribbon_fullboutdata_dpix_a0darkflash103.png
Behavior Data Graph 1

Behavior Data Description 2
Day all prepulse tap Merged section Pvalue = not significant 23 wt vs 20 hom 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 14 wt vs 16 hom 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 23 wt vs 20 hom 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 14 wt vs 16 hom ribgraph_mean_ribbonbout_averhofrac_10min_combo.png
Behavior Data Graph 5

Behavior Data Description 6
Strong tap Graph Pvalue = 0.00748 14 wt vs 16 hom boxgraph_pd__bigmovesribgraph_mean_ribbon_polygonarea_dist_nightprepulseinhibition102.png
Behavior Data Graph 6

Behavior Data Description 7
Tap habituation Graph Pvalue = 0.00649 14 wt vs 33 het boxgraph_pd__ribgraph_mean_ribbon_peakdpix_adaytaphab102.png
Behavior Data Graph 7

Behavior Data Description 8
Weak tap Graph Pvalue = 0.0116 69 hetandwt vs 20 hom boxgraph_pd__smallmovesribgraph_mean_ribbon_timeresponse_dpix_shortnightprepulseinhibition101.png
Behavior Data Graph 8

Behavior Data Description 9
None
Behavior Data Graph 9
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Behavior Data Description 10
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Behavior Data Graph 10
None
Behavior Data Description 11
None
Behavior Data Graph 11
None
Behavior Data Description 12
None
Behavior Data Graph 12
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Behavior Data Description 13
None
Behavior Data Graph 13
None
Behavior Data Description 14
None
Behavior Data Graph 14
None