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: cellular phenotype
Accession: MP:0005384
browse the term
Definition: the observable morphological and physiological characteristics of the basic structural and functional unit of all mammalian organisms that are manifested through development and lifespan
Synonyms: exact_synonym: cell phenotype
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Add3
adducin 3
IMP
RGD
PMID:32029431
RGD:150340736
NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
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Crh
corticotropin releasing hormone
IDA
RGD
PMID:11908464
RGD:704423
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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Cryba1
crystallin, beta A1
IMP
RGD
PMID:21266465
RGD:126925759
NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
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Cryba1Nuc1Dbsa
crystallin, beta A1;Nuc1 mutant, Dbsa
IMP
RGD
PMID:21266465
RGD:126925759
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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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Myc
MYC proto-oncogene, bHLH transcription factor
IMP
RGD
PMID:22842522
RGD:7207891
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Dnmt1
DNA methyltransferase 1
IMP
RGD
PMID:32051532
RGD:126925233
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Dnmt1tm1(Myh6-cre)Cqin
DNA methyltransferase 1; tm1(Myh6-cre), Cqin
IMP
RGD
PMID:32051532
RGD:126925233
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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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Tg
thyroglobulin
IAGP
DNA:missense mutation:cds:p.G2320R (rat)
RGD
PMID:11089535
RGD:730133
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
compared to wild type and heterozygotes
RGD
PMID:11089535
RGD:730133
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Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
induces
IMP
compared to standard diet
RGD
PMID:29656108
RGD:150520032
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
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Cyp2j4em1Sage
cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage
induces
IMP
compared to standard diet
RGD
PMID:29656108
RGD:150520032
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Pparg
peroxisome proliferator-activated receptor gamma
IAGP
RGD
PMID:27381370
RGD:127285618
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppargm1Kyo
peroxisome proliferator-activated receptor gamma; ENU induced mutant 1, Kyo
IAGP
RGD
PMID:27381370
RGD:127285618
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Cplx1
complexin 1
IMP
RGD
PMID:31875236
RGD:127285808
NCBI chr14:1,184,638...1,216,392
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Myc
MYC proto-oncogene, bHLH transcription factor
IMP
RGD
PMID:22629444
RGD:7240532
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Mrs2
magnesium transporter MRS2
IMP
DNA:missense mutation:intron (Mrs2)
RGD
PMID:21253565
RGD:12793070
NCBI chr17:40,063,924...40,087,073
Ensembl chr17:40,063,962...40,081,887
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Mrs2dmyKyo
MRS2 magnesium transporter; demyelination mutant, Kyo
IMP
DNA:missense mutation:intron (Mrs2)
RGD
PMID:21253565
RGD:12793070
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Lamp2
lysosomal-associated membrane protein 2
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:28124283
RGD:13703118
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:28124283
RGD:13703118
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Isca1
iron-sulfur cluster assembly 1
IMP
RGD
PMID:31016283
RGD:39131292
NCBI chr17:4,905,291...4,917,955
Ensembl chr17:4,905,287...4,917,955
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Hras
HRas proto-oncogene, GTPase
IDA
RGD
PMID:14988264
RGD:1358731
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Tp53
tumor protein p53
IMP
seminiferous tubule; compared to SD
RGD
PMID:28834365
RGD:14995504
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp53em1Sage
tumor protein p53; ZFN induced mutant 1, Sage
IMP
seminiferous tubule; compared to SD
RGD
PMID:28834365
RGD:14995504
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Dnd1
DND microRNA-mediated repression inhibitor 1
IAGP
compared to WKY
RGD
PMID:22655094
RGD:40924659
NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316
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Dnd1ter
DND microRNA-mediated repression inhibitor 1, ter mutant
IAGP
compared to WKY
RGD
PMID:22655094
RGD:40924659
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Esr2
estrogen receptor 2
IMP
compared to wild type
RGD
PMID:28520870
RGD:38548924
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Esr2em1Soar
estrogen receptor 2; ZFN induced mutant 1, Soar
IMP
compared to wild type
RGD
PMID:28520870
RGD:38548924
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Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
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Sbf1
SET binding factor 1
IAGP
DNA:substitution:intron 37:G>A (rat)
RGD
PMID:27335132
RGD:38549340
NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
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Sbf1m1Ipcv
SET binding factor 1; mutation 1, Institute of Physiology, Czechoslovac Academy of Sciences
IAGP
RGD
PMID:27335132
RGD:38549340
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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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Il1rl2
interleukin 1 receptor-like 2
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667
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Il1rl2tm1(Myh6-cre)Mhzh
interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
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Prkdc
protein kinase, DNA-activated, catalytic subunit
IMP
RGD
PMID:30485360
RGD:39938998
NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Prkdcem1Sage
protein kinase, DNA-activated, catalytic subunit; ZFN induced mutant 1, Sage
IMP
RGD
PMID:30485360
RGD:39938998
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Golgb1
golgin B1
IAGP
RGD
PMID:21851869
RGD:40902994
NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
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Myc
MYC proto-oncogene, bHLH transcription factor
IMP
RGD
PMID:22842522
RGD:7207891
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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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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Myc
MYC proto-oncogene, bHLH transcription factor
IMP
RGD
PMID:22629444
RGD:7240532
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Tbc1d1
TBC1 domain family member 1
induces
IMP
compared to Wild type
RGD
PMID:28808062
RGD:150521563
NCBI chr14:43,936,820...44,135,133
Ensembl chr14:43,935,636...44,136,499
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Tbc1d1Tn(sb)1Fkh
TBC1 domain family member 1; Sleeping Beauty induced mutant 1, Fkh
induces
IMP
compared to Wild type
RGD
PMID:28808062
RGD:150521563
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Ednrb
endothelin receptor type B
IMP
RGD
PMID:18683040
RGD:4892578
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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Cryba1
crystallin, beta A1
IMP
RGD
PMID:15721615
RGD:126925760
NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
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Cryba1Nuc1Dbsa
crystallin, beta A1;Nuc1 mutant, Dbsa
IMP
RGD
PMID:15721615
RGD:126925760
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Defb23em2Mlit Defb26em2Mlit
defensin beta 23, defensin beta 26; CRISPR/Cas9 induced mutant2, Mlit
IMP
RGD
PMID:29141997
RGD:13782190
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Cd247
Cd247 molecule
IMP
compared to wild-type
RGD
PMID:24343121
RGD:13442481
NCBI chr13:78,043,302...78,118,437
Ensembl chr13:78,043,307...78,122,263
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Cd247em1Mcwi
Cd247 molecule; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
RGD
PMID:24343121
RGD:13442481
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Ccdc39
coiled-coil domain containing 39
IMP
RGD
PMID:31771992
RGD:150521527
NCBI chr 2:116,665,261...116,703,364
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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Psen1
presenilin 1
IDA
RGD
PMID:11895366
RGD:1304239
NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Tbc1d1
TBC1 domain family member 1
IMP
RGD
PMID:28177704
RGD:150521607
NCBI chr14:43,936,820...44,135,133
Ensembl chr14:43,935,636...44,136,499
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Tbc1d1Tn(sb)1Fkh
TBC1 domain family member 1; Sleeping Beauty induced mutant 1, Fkh
IMP
RGD
PMID:28177704
RGD:150521607
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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
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:30705305
RGD:14995942
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Kdm6a
lysine demethylase 6A
IMP
mRNA:incr expr:myocardium (rat)
RGD
PMID:30887465
RGD:151665136
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Ubd
ubiquitin D
IMP
associated with induced myocardial infarction
RGD
PMID:29438664
RGD:126925221
NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639 Ensembl chr20:1,385,864...1,408,639
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Ubdem1
ubiquitin D; CRISPR/Cas9 induced mutant1
IMP
associated with induced myocardial infarction
RGD
PMID:29438664
RGD:126925221
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Ccnd1
cyclin D1
IDA
RGD
PMID:12668975
RGD:704417
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ednrb
endothelin receptor type B
IMP
RGD
PMID:18683040
RGD:4892578
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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Lpin1
lipin 1
IMP
RGD
PMID:21715287
RGD:38599010
NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
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Lpin1m1Hubr
lipin 1; ENU induced mutant 1, Hubr
IMP
compared to Wild type
RGD
PMID:21715287
RGD:38599010
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Myc
MYC proto-oncogene, bHLH transcription factor
IMP
RGD
PMID:22842522
RGD:7207891
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Tp53
tumor protein p53
IMP
compared to SD
RGD
PMID:28834365
RGD:14995504
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp53em1Sage
tumor protein p53; ZFN induced mutant 1, Sage
IMP
compared to SD
RGD
PMID:28834365
RGD:14995504
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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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Tg
thyroglobulin
IAGP
DNA:missense mutation:cds:p.G2320R (rat)
RGD
PMID:11089535
RGD:730133
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
compared to wild type and heterozygotes
RGD
PMID:11089535
RGD:730133
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Wfs1
wolframin ER transmembrane glycoprotein
onset treatment
IMP
RGD
PMID:28860598 PMID:29976929
RGD:149735331 , RGD:150519890
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 treatment
IMP
RGD
PMID:28860598 PMID:29976929
RGD:149735331 , RGD:150519890
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Tbc1d1
TBC1 domain family member 1
induces
IMP
RGD
PMID:28808062
RGD:150521563
NCBI chr14:43,936,820...44,135,133
Ensembl chr14:43,935,636...44,136,499
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Tbc1d1Tn(sb)1Fkh
TBC1 domain family member 1; Sleeping Beauty induced mutant 1, Fkh
induces
IMP
RGD
PMID:28808062
RGD:150521563
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Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
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Nek8
NIMA-related kinase 8
IAGP
compared to control Lewis
RGD
PMID:22899815
RGD:40924667
NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
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Nek8lpkArc
NIMA-related kinase 8; lpk mutant, Arc
IAGP
compared to control Lewis
RGD
PMID:22899815
RGD:40924667
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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:19515853
RGD:8554306
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tp53
tumor protein p53
IMP
RGD
PMID:28834365
RGD:14995504
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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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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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IMP
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
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Pde6b
phosphodiesterase 6B
IMP
compared to wild-type
RGD
PMID:31009522
RGD:40924664
NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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Pde6bem1Baek
phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek
IMP
compared to wild-type
RGD
PMID:31009522
RGD:40924664
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Pon1
paraoxonase 1
IMP
compared to SD
RGD
PMID:30262871
RGD:45073131
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pon1em1Lizh
paraoxonase 1; CRISPR/Cas9 induced mutant 1, Lizh
IMP
compared to SD
RGD
PMID:30262871
RGD:45073131
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Themis
thymocyte selection associated
IAGP
DNA:frameshift mutation:
RGD
PMID:22275874
RGD:38599149
NCBI chr 1:16,433,906...16,623,889
Ensembl chr 1:16,432,631...16,664,329
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Themism1Adej
thymocyte selection associated; mutant1, Adej
IAGP
compared to BN
RGD
PMID:22275874
RGD:38599149
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Atm
ATM serine/threonine kinase
IMP
DNA:deletion:exon:
RGD
PMID:28007901
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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Atp7b
ATPase copper transporting beta
IAGP
compared to LEA/Hok
RGD
PMID:30733544
RGD:25823141
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Atp7bhts
ATPase copper transporting beta; hepatitis
IAGP
compared to LEA/Hok
RGD
PMID:30733544
RGD:25823141
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Ddah1
dimethylarginine dimethylaminohydrolase 1
exacerbates
IMP
RGD
PMID:31402164
RGD:151347602
NCBI chr 2:234,667,499...234,800,322
Ensembl chr 2:234,667,491...234,799,339
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Ddah1em1Ywxu
dimethylarginine dimethylaminohydrolase 1; CRISPR/Cas9 induced mutant 1, Ywxu
exacerbates
IMP
RGD
PMID:31402164
RGD:151347602
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Il1rl2
interleukin 1 receptor-like 2
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667
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Il1rl2tm1(Myh6-cre)Mhzh
interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
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Nox4
NADPH oxidase 4
severity
IMP
RGD
PMID:26644237
RGD:11085830
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
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Nox4em2Mcwi
NADPH oxidase 4; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
severity
IMP
RGD
PMID:26644237
RGD:11085830
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Pon1
paraoxonase 1
IMP
compared to SD
RGD
PMID:30262871
RGD:45073131
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pon1em1Lizh
paraoxonase 1; CRISPR/Cas9 induced mutant 1, Lizh
IMP
compared to SD
RGD
PMID:30262871
RGD:45073131
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Sod3
superoxide dismutase 3
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:19515853
RGD:8554306
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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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
G
Ngly1em1Ta
N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta
IMP
RGD
PMID:32259258
RGD:39457703
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all