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 brain morphology
Accession: MP:0002152
browse the term
Definition: any structural anomaly of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)
Synonyms: exact_synonym: abnormal brain structure; brain abnormalities; brain dysplasia; brain structure abnormalities; central nervous system: brain dysmorphology
alt_id: MP:0000770; MP:0000775
xref: MGI:2173612
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Ar
androgen receptor
IAGP
RGD
PMID:17490813
RGD:10043338
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Csf1r
colony stimulating factor 1 receptor
IMP
RGD
PMID:33450391
RGD:126781687
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Csf1rtm(EGFP)Tset
colony stimulating factor 1 receptor; target mutant, Tset
IMP
RGD
PMID:33450391
RGD:126781687
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Dcx
doublecortin
IMP
RGD
PMID:14625554
RGD:1304461
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Cyfip1
cytoplasmic FMR1 interacting protein 1
IMP
RGD
PMID:31371763
RGD:14981598
NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
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Cyfip1em1Sage
cytoplasmic FMR1 interacting protein 1; CRISPR/Cas9 induced mutant 1, Sage
IMP
RGD
PMID:31371763
RGD:14981598
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Wfs1
wolframin ER transmembrane glycoprotein
onset
IMP
RGD
PMID:28860598
RGD:149735331
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Wfs1em1Ptsn
wolframin ER transmembrane glycoprotein; ZFN induced mutant 1
onset
IMP
RGD
PMID:28860598
RGD:149735331
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
IMP
RGD
PMID:31644904
RGD:126925983
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ercc6em1Cgen
ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen
IMP
RGD
PMID:31644904
RGD:126925983
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Pclo
piccolo (presynaptic cytomatrix protein)
IMP
compared to wild-type rat
RGD
PMID:31074746
RGD:41408338
NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885
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PcloTn(sb-B-Geo)Fkh
presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh
IMP
compared to wild-type rat
RGD
PMID:31074746
RGD:41408338
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L1cam
L1 cell adhesion molecule
IMP
RGD
PMID:30738385
RGD:14695001
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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Csf1r
colony stimulating factor 1 receptor
IMP
RGD
PMID:33450391
RGD:126781687
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Csf1rtm(EGFP)Tset
colony stimulating factor 1 receptor; target mutant, Tset
IMP
RGD
PMID:33450391
RGD:126781687
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Wwox
WW domain-containing oxidoreductase
IAGP
compared to wild type and heterozygotes
RGD
PMID:18676360
RGD:150429974
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Wwoxlde
WW domain-containing oxidoreductase; lde mutant
IAGP
compared to wild type and heterozygotes
RGD
PMID:18676360
RGD:150429974
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Depdc5
DEP domain containing 5, GATOR1 subcomplex subunit
IMP
RGD
PMID:26873552
RGD:11573213
NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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Depdc5em1Kyo
DEP domain containing 5, GATOR1 subcomplex subunit; TALEN induced mutant1, Kyo
IMP
RGD
PMID:26873552
RGD:11573213
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Depdc5em2Kyo
DEP domain containing 5, GATOR1 subcomplex subunit; TALEN induced mutant2, Kyo
IMP
RGD
PMID:26873552
RGD:11573213
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Depdc5
DEP domain containing 5, GATOR1 subcomplex subunit
IMP
RGD
PMID:26873552
RGD:11573213
NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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Depdc5em1Kyo
DEP domain containing 5, GATOR1 subcomplex subunit; TALEN induced mutant1, Kyo
IMP
RGD
PMID:26873552
RGD:11573213
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Depdc5em2Kyo
DEP domain containing 5, GATOR1 subcomplex subunit; TALEN induced mutant2, Kyo
IMP
RGD
PMID:26873552
RGD:11573213
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
IMP
compared to wild-type and untreated
RGD
PMID:29530712
RGD:40924655
NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
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Nr4a1m1Mcwi
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin
IMP
compared to wild-type and untreated
RGD
PMID:29530712
RGD:40924655
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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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Unc5c
unc-5 netrin receptor C
IAGP
RGD
PMID:14993736
RGD:1302461
NCBI chr 2:230,180,353...230,535,219
Ensembl chr 2:230,180,951...230,535,217
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Unc5ccvd
unc-5 netrin receptor C; cerebellar vermis defect
IAGP
RGD
PMID:14993736
RGD:1302461
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Unc5chob
unc-5 netrin receptor C; hobble mutant
IAGP
RGD
PMID:14993736
RGD:1302461
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Aspa
aspartoacylase
IMP
RGD
PMID:27026062
RGD:13464274
NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
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Aspaem34Kyo
aspartoacylase;TALEN induced mutant 34,Kyo
IMP
RGD
PMID:27026062
RGD:13464274
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Atrn
attractin
IAGP
DNA:deletion
RGD
PMID:11209055 PMID:12379762
RGD:67998 , RGD:1299186
NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322
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Atrnmv
attractin; myelin vacuolation mutant
IAGP
RGD
PMID:12379762
RGD:1299186
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Dop1a
DOP1 leucine zipper like protein A
IAGP
RGD
PMID:24863653
RGD:40818080
NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353
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Wwox
WW domain-containing oxidoreductase
IAGP
DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202 compared to wild type and heterozygotes
RGD
PMID:19500159 PMID:17803050
RGD:150429979 , RGD:150429978
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Wwoxlde
WW domain-containing oxidoreductase; lde mutant
IAGP
compared to wild type and heterozygotes
RGD
PMID:17803050 PMID:19500159
RGD:150429978 , RGD:150429979
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Hvcn1
hydrogen voltage-gated channel 1
IMP
RGD
PMID:31250553
RGD:14985213
NCBI chr12:34,341,673...34,370,010
Ensembl chr12:34,335,190...34,370,141
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Hvcn1em2Mcwi
hydrogen voltage-gated channel 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:31250553
RGD:14985213
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Csf1r
colony stimulating factor 1 receptor
IMP
RGD
PMID:33450391
RGD:126781687
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
G
Csf1rtm(EGFP)Tset
colony stimulating factor 1 receptor; target mutant, Tset
IMP
RGD
PMID:33450391
RGD:126781687
G
Bckdk
branched chain ketoacid dehydrogenase kinase
IAGP
DNA:missense mutation:cds:G369E (rat)
RGD
PMID:27472223
RGD:39131293
NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
IMP
RGD
PMID:25934999
RGD:11085488
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Bscl2m1Kyo
BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo
IMP
RGD
PMID:25934999
RGD:11085488
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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
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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:27329765
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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Pclo
piccolo (presynaptic cytomatrix protein)
IMP
compared to wild-type rat
RGD
PMID:31074746
RGD:41408338
NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885
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PcloTn(sb-B-Geo)Fkh
presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh
IMP
compared to wild-type rat
RGD
PMID:31074746
RGD:41408338
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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:15052665
RGD:15014788
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:15052665
RGD:15014788
G
Csf1r
colony stimulating factor 1 receptor
IMP
RGD
PMID:33450391
RGD:126781687
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
G
Csf1rtm(EGFP)Tset
colony stimulating factor 1 receptor; target mutant, Tset
IMP
RGD
PMID:33450391
RGD:126781687
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Cit
citron rho-interacting serine/threonine kinase
IAGP
RGD
PMID:11932363
RGD:13204832
NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
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CitfhJjlo
citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo
IAGP
RGD
PMID:11932363
RGD:13204832
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Csf1r
colony stimulating factor 1 receptor
IMP
RGD
PMID:33450391
RGD:126781687
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
G
Csf1rtm(EGFP)Tset
colony stimulating factor 1 receptor; target mutant, Tset
IMP
RGD
PMID:33450391
RGD:126781687
G
Csf1r
colony stimulating factor 1 receptor
IMP
RGD
PMID:33450391
RGD:126781687
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
G
Csf1rtm(EGFP)Tset
colony stimulating factor 1 receptor; target mutant, Tset
IMP
RGD
PMID:33450391
RGD:126781687
G
Wwox
WW domain-containing oxidoreductase
IAGP
compared to wild type and heterozygotes
RGD
PMID:18676360
RGD:150429974
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
G
Wwoxlde
WW domain-containing oxidoreductase; lde mutant
IAGP
compared to wild type and heterozygotes
RGD
PMID:18676360
RGD:150429974
G
Pclo
piccolo (presynaptic cytomatrix protein)
IMP
compared to wild-type rat
RGD
PMID:31074746
RGD:41408338
NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885
G
PcloTn(sb-B-Geo)Fkh
presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh
IMP
compared to wild-type rat
RGD
PMID:31074746
RGD:41408338
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Pink1
PTEN induced kinase 1
IMP
compared to LEH
RGD
PMID:25421206
RGD:11560775
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
compared to LEH
RGD
PMID:25421206
RGD:11560775
G
Pink1
PTEN induced kinase 1
IMP
compared to LEH
RGD
PMID:25421206
RGD:11560775
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
G
Pink1em1Sage
PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
compared to LEH
RGD
PMID:25421206
RGD:11560775
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Ccdc39
coiled-coil domain containing 39
IMP
RGD
PMID:31771992
RGD:150521527
NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
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Ccdc39em1Jgn
coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn
IMP
RGD
PMID:31771992
RGD:150521527
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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:30705305
RGD:14995942
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
G
Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:30705305
RGD:14995942
G
Csf1r
colony stimulating factor 1 receptor
IMP
RGD
PMID:33450391
RGD:126781687
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
G
Csf1rtm(EGFP)Tset
colony stimulating factor 1 receptor; target mutant, Tset
IMP
RGD
PMID:33450391
RGD:126781687
G
L1cam
L1 cell adhesion molecule
IMP
RGD
PMID:30738385
RGD:14695001
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
G
Bckdk
branched chain ketoacid dehydrogenase kinase
IAGP
DNA:missense mutation:cds:G369E (rat)
RGD
PMID:27472223
RGD:39131293
NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
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L1cam
L1 cell adhesion molecule
IMP
RGD
PMID:30738385
RGD:14695001
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
G
Tmem67
transmembrane protein 67
IAGP
RGD
PMID:30705305
RGD:14995942
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
G
Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:30705305
RGD:14995942
G
Ccdc39
coiled-coil domain containing 39
IMP
RGD
PMID:31771992
RGD:150521527
NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
G
Ccdc39em1Jgn
coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn
IMP
RGD
PMID:31771992
RGD:150521527
G
Tmem67
transmembrane protein 67
IAGP
RGD
PMID:30705305
RGD:14995942
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
G
Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:30705305
RGD:14995942
G
Lrrk2
leucine-rich repeat kinase 2
IMP
RGD
PMID:24244710
RGD:12880447
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
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Lrrk2em1Sage
leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24244710
RGD:12880447
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IMP
in KO rat
RGD
PMID:30893315
RGD:126908018
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cdkn1bem1Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc
IMP
RGD
PMID:30893315
RGD:126908018
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Cdkn1bem4Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc
IMP
RGD
PMID:30893315
RGD:126908018
G
Lrrk2
leucine-rich repeat kinase 2
IMP
RGD
PMID:24244710
RGD:12880447
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
G
Lrrk2em1Sage
leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24244710
RGD:12880447
G
Tmem67
transmembrane protein 67
IAGP
RGD
PMID:30705305
RGD:14995942
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
G
Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:30705305
RGD:14995942
G
Wwox
WW domain-containing oxidoreductase
IAGP
compared to wild type and heterozygotes
RGD
PMID:17803050
RGD:150429978
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
G
Wwoxlde
WW domain-containing oxidoreductase; lde mutant
IAGP
compared to wild type and heterozygotes
RGD
PMID:17803050
RGD:150429978
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
IMP
in KO rat
RGD
PMID:30893315
RGD:126908018
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
G
Cdkn1bem1Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc
IMP
RGD
PMID:30893315
RGD:126908018
G
Cdkn1bem4Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc
IMP
RGD
PMID:30893315
RGD:126908018
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Tg
thyroglobulin
IAGP
RGD
PMID:11089535 PMID:3366187
RGD:730133 , RGD:12880373
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Tgrdw
thyroglobulin; rdw mutant
IAGP
RGD
PMID:11089535 PMID:3366187
RGD:730133 , RGD:12880373
G
Ercc6
ERCC excision repair 6, chromatin remodeling factor
IMP
RGD
PMID:31644904
RGD:126925983
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
G
Ercc6em1Cgen
ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen
IMP
RGD
PMID:31644904
RGD:126925983
G
Pclo
piccolo (presynaptic cytomatrix protein)
IMP
compared to wild-type rat
RGD
PMID:31074746
RGD:41408338
NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885
G
PcloTn(sb-B-Geo)Fkh
presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh
IMP
compared to wild-type rat
RGD
PMID:31074746
RGD:41408338
G
Pclo
piccolo (presynaptic cytomatrix protein)
IMP
compared to wild-type rat
RGD
PMID:31074746
RGD:41408338
NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885
G
PcloTn(sb-B-Geo)Fkh
presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh
IMP
compared to wild-type rat
RGD
PMID:31074746
RGD:41408338
G
Pclo
piccolo (presynaptic cytomatrix protein)
IMP
compared to wild-type rat
RGD
PMID:31074746
RGD:41408338
NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885
G
PcloTn(sb-B-Geo)Fkh
presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh
IMP
compared to wild-type rat
RGD
PMID:31074746
RGD:41408338
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