MAMMALIAN PHENOTYPE - ANNOTATIONS
The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term: abnormal voluntary movement
Accession: MP:0003491
browse the term
Definition: anomaly in coordinated movements executed with a purpose and can be improved by learning and/or experience
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
IAGP
RGD
PMID:17196942
RGD:1598976
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Cplx1
complexin 1
IMP
RGD
PMID:31875236
RGD:127285808
NCBI chr14:1,184,677...1,216,392
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Mkx
mohawk homeobox
IMP
compared to Wistar
RGD
PMID:27370800
RGD:40924660
NCBI chr17:55,077,073...55,156,877
Ensembl chr17:55,077,540...55,156,124
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Mkxem1Asah
mohawk homeobox; CRISPR/Cas9 system induced mutant 1, Asah
IMP
compared to Wistar
RGD
PMID:27370800
RGD:40924660
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Park7
Parkinsonism associated deglycase
IMP
RGD
PMID:24969022
RGD:13210569
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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Park7em1Sage
parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
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Pink1
PTEN induced kinase 1
IMP
RGD
PMID:24969022
RGD:13210569
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
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Pink1em1Sage
PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
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Dpp4
dipeptidylpeptidase 4
IAGP
RGD
PMID:14568317
RGD:1626460
NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901
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Ghsr
growth hormone secretagogue receptor
IMP
DNA:missense mutation:cds:nucleotide 1027
RGD
PMID:27129673
RGD:150520013
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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Ghsrm1Mcwi
growth hormone secretagogue receptor; mutation 1, Medical College of Wisconsin
IMP
compared to wild type rats
RGD
PMID:27129673
RGD:150520013
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Gnal
G protein subunit alpha L
IMP
RGD
PMID:31678405
RGD:150429833
NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599
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Gnalem1Hpng
G protein subunit alpha L; CRISPR/Cas9 induced mutant 1, Hpng
IMP
compared to wildtype controls
RGD
PMID:31678405
RGD:150429833
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Grk6
G protein-coupled receptor kinase 6
IMP
associated with Parkinson Disease
RGD
PMID:20410529
RGD:5684919
NCBI chr17:9,177,018...9,192,813
Ensembl chr17:9,177,019...9,192,644
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Lamp2
lysosomal-associated membrane protein 2
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:29720683
RGD:13703117
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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Lamp2em1
lysosomal-associated membrane protein 2; TALEN induced mutant1
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:29720683
RGD:13703117
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Reln
reelin
IAGP
RGD
PMID:12820163
RGD:729917
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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Ghsr
growth hormone secretagogue receptor
IMP
RGD
PMID:21790898
RGD:150429661
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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Ghsrm1Mcwi
growth hormone secretagogue receptor; mutation 1, Medical College of Wisconsin
IMP
compared to wild type strain FHH/EurMcwi
RGD
PMID:21790898
RGD:150429661
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Ghsr
growth hormone secretagogue receptor
IMP
RGD
PMID:21790898
RGD:150429661
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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Ghsrm1Mcwi
growth hormone secretagogue receptor; mutation 1, Medical College of Wisconsin
IMP
compared to wild type strain FHH/EurMcwi
RGD
PMID:21790898
RGD:150429661
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Myo5a
myosin VA
IAGP
DNA:rearrangement, deletion:exon:141-bp deletion position 1442-1582
RGD
PMID:17185506
RGD:1600835
NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
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Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
IMP
RGD
PMID:30408474
RGD:26923909
NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
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Hcn1em1Kyo
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo
IMP
RGD
PMID:30408474
RGD:26923909
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Aph1b
aph-1 homolog B, gamma secretase subunit
IAGP
DNA:duplications
RGD
PMID:15721236
RGD:13703127
NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243
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Bace1
beta-secretase 1
IMP
RGD
PMID:28281673
RGD:13782149
NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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Bace1em1Sage
IMP
RGD
PMID:28281673
RGD:13782149
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Dmd
dystrophin
IMP
RGD
PMID:25310701
RGD:12880034
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Dmdem1Ang
dystrophin; TALEN-induced mutant1, Ang
IMP
RGD
PMID:25310701
RGD:12880034
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Gad1
glutamate decarboxylase 1
IMP
RGD
PMID:24200867 PMID:33293518
RGD:401900162 , RGD:158012686
NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
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Gad1em15Yyan
glutamate decarboxylase 1; CRISPR/Cas9 induced mutant 15, Yyan
IMP
RGD
PMID:33293518
RGD:158012686
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Gla
galactosidase, alpha
sexual_dimorphism
IMP
compared to wild type female
RGD
PMID:36660199
RGD:401976421
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
sexual_dimorphism
IMP
compared to wild type female
RGD
PMID:36660199
RGD:401976421
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Mc4r
melanocortin 4 receptor
IMP
RGD
PMID:21527895
RGD:6478803
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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Mc4rm1Hubr
melanocortin 4 receptor; ENU induced mutation 1, Hubr
IMP
RGD
PMID:21527895
RGD:6478803
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Mecp2
methyl CpG binding protein 2
IMP
compared to SD wild-type
RGD
PMID:27329765 PMID:27313794
RGD:40924662 , RGD:11568037
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Mecp2em1Sage
methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
compared to SD wild-type
RGD
PMID:27313794 PMID:27329765
RGD:11568037 , RGD:40924662
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Ngly1
N-glycanase 1
IMP
RGD
PMID:32259258
RGD:39457703
NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630
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Ngly1em1Ta
N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta
IMP
RGD
PMID:32259258
RGD:39457703
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Nmb
neuromedin B
IDA
RGD
PMID:7823417
RGD:1642338
NCBI chr 1:134,869,446...134,875,507
Ensembl chr 1:134,869,446...134,872,190
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Nrg1
neuregulin 1
sexual_dimorphism
IMP
compared to mutant male
RGD
PMID:21620900
RGD:405650204
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Nrg1Tn(sb-T2/Bart3)2.183Mcwi
neuregulin 1; transposon insertion 2.183, Medical College of Wisconsin
sexual_dimorphism
IMP
compared to mutant male
RGD
PMID:21620900
RGD:405650204
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Pink1
PTEN induced kinase 1
IMP
RGD
PMID:24969022
RGD:13210569
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
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Pink1em1Sage
PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
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Slc9a6
solute carrier family 9 member A6
IMP
RGD
PMID:34928329
RGD:151664747
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
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Slc9a6 em1Moro
solute carrier family 9 member A6;CRISPR/Cas9 induced mutant1, Moro
IMP
RGD
PMID:34928329
RGD:151664747
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
IMP
compared to wild-type female
RGD
PMID:30902660
RGD:42724472
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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Cacna1cem1Sage
calcium voltage-gated channel subunit alpha1 C; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
compared to wild-type female
RGD
PMID:30902660
RGD:42724472
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Cplx1
complexin 1
IMP
RGD
PMID:31875236
RGD:127285808
NCBI chr14:1,184,677...1,216,392
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Drd1
dopamine receptor D1
IMP
compared to wild type
RGD
PMID:27483345
RGD:13825241
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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Drd1m1Hubr
dopamine receptor D1; ENU induced mutant 1, Hubr
IMP
compared to wild type
RGD
PMID:27483345
RGD:13825241
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Gad1
glutamate decarboxylase 1
IMP
RGD
PMID:33293518
RGD:158012686
NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
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Gad1em15Yyan
glutamate decarboxylase 1; CRISPR/Cas9 induced mutant 15, Yyan
IMP
RGD
PMID:33293518
RGD:158012686
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Park7
Parkinsonism associated deglycase
IMP
RGD
PMID:24969022
RGD:13210569
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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Park7em1Sage
parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
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Pax6
paired box 6
IAGP
DNA:frameshift mutation:cds:
RGD
PMID:21203536
RGD:8552339
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pax6Sey2
paired box gene 6, small eye mutation 2
IAGP
RGD
PMID:21203536
RGD:8552339
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Pink1
PTEN induced kinase 1
IMP
RGD
PMID:24969022
RGD:13210569
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
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Pink1em1Sage
PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
G
Slc9a6
solute carrier family 9 member A6
IMP
RGD
PMID:34928329
RGD:151664747
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
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Slc9a6 em1Moro
solute carrier family 9 member A6;CRISPR/Cas9 induced mutant1, Moro
IMP
RGD
PMID:34928329
RGD:151664747
G
Ube3a
ubiquitin protein ligase E3A
IMP
RGD
PMID:32066685
RGD:126790466
NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
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Ube3aem1Jue
ubiquitin protein ligase E3A; CRISPR/Cas9 induced mutant1, Jue
IMP
RGD
PMID:32066685
RGD:126790466
G
Atm
ATM serine/threonine kinase
IMP
DNA:deletion:exon:
RGD
PMID:27895165 PMID:28007901
RGD:12879393 , RGD:12879399
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atmem1Kyo
ATM serine/threonine kinase; ZFN induced mutant 1, Kyo
IMP
RGD
PMID:28007901
RGD:12879399
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Atmm1Kyo
ATM serine/threonine kinase; ENU induced mutant 1, Kyo
IMP
RGD
PMID:27895165 PMID:28007901
RGD:12879393 , RGD:12879399
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Adgrl3
adhesion G protein-coupled receptor L3
IMP
compared to wild type
RGD
PMID:31176715
RGD:127285660
NCBI chr14:26,336,320...27,104,060
Ensembl chr14:26,368,277...27,105,860
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Adgrl3em1Huyc
adhesion G protein-coupled receptor L3; CRISPR/Cas9 induced mutant1, Huyc
IMP
compared to wild type
RGD
PMID:31176715
RGD:127285660
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Cntnap2
contactin associated protein 2
IMP
RGD
PMID:28364455 PMID:30126973
RGD:12880397 , RGD:126790476
NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
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Cntnap2em1Sage
contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:28364455 PMID:30126973
RGD:12880397 , RGD:126790476
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Fmr1
fragile X messenger ribonucleoprotein 1
IMP
compared to wild type controls
RGD
PMID:38378836 PMID:36581671
RGD:401976422 , RGD:401976427
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Fmr1em1Sage
FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
compared to wild type controls
RGD
PMID:36581671
RGD:401976427
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Fmr1em2Mcwi
FMRP translational regulator 1; CRISPR/Cas9 induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:38378836
RGD:401976422
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Myo7a
myosin VIIA
IAGP
DNA:nonsense mutation:cds
RGD
PMID:15965244
RGD:1581470
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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Myo7atnd /Hubr
myosin VIIA; ENU induced tornado mutant, Hubr
IAGP
DNA:nonsense mutation:cds
RGD
PMID:15965244
RGD:1581470
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Nlgn3
neuroligin 3
IMP
RGD
PMID:28958035
RGD:126790492
NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
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Nlgn3em1Sage
neuroligin 3; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:28958035
RGD:126790492
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Nrxn1
neurexin 1
IMP
RGD
PMID:25420124
RGD:12914797
NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
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Nrxn1em1
neurexin 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:25420124
RGD:12914797
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Shank2
SH3 and multiple ankyrin repeat domains 2
IMP
RGD
PMID:29970986
RGD:126790534
NCBI chr 1:199,146,210...199,590,962
Ensembl chr 1:199,169,429...199,589,394
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Shank2em13Sage
SH3 and multiple ankyrin repeat domains 2; ZFN induced mutant13, Sage
IMP
RGD
PMID:29970986
RGD:126790534
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Arsb
arylsulfatase B
IAGP
RGD
PMID:21887218
RGD:39131283
NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671
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Cplx1
complexin 1
IMP
RGD
PMID:31875236
RGD:127285808
NCBI chr14:1,184,677...1,216,392
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Htt
huntingtin
IMP
RGD
PMID:12620967
RGD:13452381
NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
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Ngly1
N-glycanase 1
IMP
RGD
PMID:32259258
RGD:39457703
NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630
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Ngly1em1Ta
N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta
IMP
RGD
PMID:32259258
RGD:39457703
G
Fmr1
fragile X messenger ribonucleoprotein 1
IMP
RGD
PMID:24773431
RGD:9831152
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
G
Fmr1em1Sage
FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24773431
RGD:9831152
G
Nlgn3
neuroligin 3
IMP
RGD
PMID:24773431 PMID:28958035
RGD:9831152 , RGD:126790492
NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
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Nlgn3em1Sage
neuroligin 3; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24773431 PMID:28958035
RGD:9831152 , RGD:126790492
G
Fmr1
fragile X messenger ribonucleoprotein 1
IMP
RGD
PMID:36536454
RGD:401976434
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
G
Fmr1em1Sage
FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:36536454
RGD:401976434
G
Nlgn3
neuroligin 3
IMP
RGD
PMID:24773431
RGD:9831152
NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
G
Nlgn3em1Sage
neuroligin 3; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24773431
RGD:9831152
G
Prkar1b
protein kinase cAMP-dependent type I regulatory subunit beta
IMP
RGD
PMID:33479380
RGD:150519900
NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942
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Prkar1bem2Tua
protein kinase cAMP-dependent type I regulatory subunit beta; CRISPR/Cas9 induced mutant 2, Tua
IMP
RGD
PMID:33479380
RGD:150519900
G
Shank2
SH3 and multiple ankyrin repeat domains 2
IMP
RGD
PMID:29970986
RGD:126790534
NCBI chr 1:199,146,210...199,590,962
Ensembl chr 1:199,169,429...199,589,394
G
Shank2em13Sage
SH3 and multiple ankyrin repeat domains 2; ZFN induced mutant13, Sage
IMP
RGD
PMID:29970986
RGD:126790534
G
Slc6a4
solute carrier family 6 member 4
induces
IMP
compared to wild type littermate
RGD
PMID:18581099
RGD:4889490
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Slc6a4m1Hubr
solute carrier family 6 member 4; ZFN induced mutant1, Hubr
induces
IMP
compared to wild type littermate
RGD
PMID:18581099
RGD:4889490
G
Ube3a
ubiquitin protein ligase E3A
IMP
RGD
PMID:32066685
RGD:126790466
NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
G
Ube3aem1Jue
ubiquitin protein ligase E3A; CRISPR/Cas9 induced mutant1, Jue
IMP
RGD
PMID:32066685
RGD:126790466
G
Cplx1
complexin 1
IMP
RGD
PMID:31875236
RGD:127285808
NCBI chr14:1,184,677...1,216,392
G
Mecp2
methyl CpG binding protein 2
IMP
compared to SD wild-type
RGD
PMID:27329765
RGD:40924662
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
G
Mecp2em1Sage
methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
compared to SD wild-type
RGD
PMID:27329765
RGD:40924662
G
Ngly1
N-glycanase 1
IMP
RGD
PMID:32259258
RGD:39457703
NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630
G
Ngly1em1Ta
N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta
IMP
RGD
PMID:32259258
RGD:39457703
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