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 renal/urinary system morphology
Accession: MP:0000516
browse the term
Definition: any structural anomaly of any of the organs or tissues responsible for fluid volume regulation, regulating electrolytes, maintaining acid-base homeostasis, and elimination of water and water soluble waste products in an organism
Synonyms: exact_synonym: abnormal urinary organs; excretory system defects; urinary organ abnormalities
narrow_synonym: urinary system dysplasia
alt_id: MP:0000517
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IMP
RGD
PMID:26077568
RGD:13800514
NCBI chr19:50,307,569...50,312,812
Ensembl chr19:33,397,656...33,402,899
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Hsd11b2em1Jmul
hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul
IMP
RGD
PMID:26077568
RGD:13800514
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Lepr
leptin receptor
IMP
RGD
PMID:27465994
RGD:12911217
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:27465994
RGD:12911217
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Ahr
aryl hydrocarbon receptor
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
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Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
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Fh
fumarate hydratase
IMP
RGD
PMID:27556703
RGD:13792708
NCBI chr13:90,056,565...90,082,450
Ensembl chr13:87,524,337...87,550,266
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Fhem1
fumarate hydratase; TALEN induced mutant 1
IMP
RGD
PMID:27556703
RGD:13792708
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Ren
renin
exacerbates
IMP
compared to wild type
RGD
PMID:21242461
RGD:7771614
NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489
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Renem1Mcwi
renin; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
exacerbates
IMP
compared to wild type
RGD
PMID:21242461
RGD:7771614
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Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:58,300,069...58,315,725
Ensembl chr10:57,801,456...57,817,120
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Gla
galactosidase, alpha
IMP
RGD
PMID:29979634
RGD:401976416
NCBI chr X:102,062,497...102,073,915
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
IMP
RGD
PMID:29979634
RGD:401976416
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Add3
adducin 3
IMP
RGD
PMID:32029431
RGD:150340736
NCBI chr 1:262,152,722...262,260,504
Ensembl chr 1:252,147,386...252,255,124
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Col4a5
collagen type IV alpha 5 chain
IMP
RGD
PMID:34675305
RGD:329845598
NCBI chr X:109,907,251...110,111,214
Ensembl chr X:105,118,820...105,322,692
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Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:58,300,069...58,315,725
Ensembl chr10:57,801,456...57,817,120
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P2ry2
purinergic receptor P2Y2
IMP
RGD
PMID:19155635
RGD:2316657
NCBI chr 1:164,764,119...164,779,578
Ensembl chr 1:155,351,165...155,367,632
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Atp7b
ATPase copper transporting beta
IAGP
RGD
PMID:11509115
RGD:1302456
NCBI chr16:76,654,725...76,726,092
Ensembl chr16:69,951,778...70,023,636
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Atp7bhts
ATPase copper transporting beta; hepatitis
IAGP
RGD
PMID:11509115
RGD:1302456
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Ahr
aryl hydrocarbon receptor
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
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Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
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Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:58,300,069...58,315,725
Ensembl chr10:57,801,456...57,817,120
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Mmp2
matrix metallopeptidase 2
IMP
associated Experimental Diabetes Mellitus, hypertension; compared to wild type SS
RGD
PMID:37643020
RGD:401827835
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Mmp2em2Mcwi
matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
associated Experimental Diabetes Mellitus, hypertension; compared to wild type SS
RGD
PMID:37643020
RGD:401827835
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Nppc
natriuretic peptide C
IMP
compared to wild type
RGD
PMID:29566041
RGD:127284867
NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:87,320,051...87,324,251
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Nppcem3Kyo
natriuretic peptide C; ZFN induced mutant 3, Kyo
IMP
compared to wild type
RGD
PMID:29566041
RGD:127284867
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Ahr
aryl hydrocarbon receptor
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
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Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
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Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:10901178
RGD:401965414
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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Abcb1a
ATP binding cassette subfamily B member 1A
IAGP
RGD
PMID:23569176
RGD:8657335
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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Anks6
ankyrin repeat and sterile alpha motif domain containing 6
IAGP
RGD
PMID:7933831
RGD:1300446
NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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Anks6PKD
ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease
IAGP
RGD
PMID:7933831
RGD:1300446
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Odc1
ornithine decarboxylase 1
TAS
RGD
PMID:12716758
RGD:1578327
NCBI chr 6:46,058,439...46,065,148
Ensembl chr 6:40,329,964...40,336,440
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Lepr
leptin receptor
IMP IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:26537785 PMID:30278832
RGD:12911216 , RGD:401960095
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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Leprem4Lizh
leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh
IMP
RGD
PMID:26537785
RGD:12911216
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P2ry2
purinergic receptor P2Y2
IMP
RGD
PMID:19155635
RGD:2316657
NCBI chr 1:164,764,119...164,779,578
Ensembl chr 1:155,351,165...155,367,632
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Ednra
endothelin receptor type A
IDA
RGD
PMID:16157796
RGD:1581830
NCBI chr19:47,137,360...47,207,961
Ensembl chr19:30,233,571...30,297,049
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Lepr
leptin receptor
disease_progression
IMP IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:27465994 PMID:28746409
RGD:12911217 , RGD:401965413
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
disease_progression
IMP
RGD
PMID:27465994
RGD:12911217
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Mmp2
matrix metallopeptidase 2
ameliorates
IMP
compared to wild type SS
RGD
PMID:37643020
RGD:401827835
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Mmp2em2Mcwi
matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
ameliorates
IMP
compared to wild type SS
RGD
PMID:37643020
RGD:401827835
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Shc1
SHC adaptor protein 1
ameliorates
IMP
RGD
PMID:27270176
RGD:12792230
NCBI chr 2:177,135,649...177,147,257
Ensembl chr 2:174,837,930...174,849,536
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Shc1em4Mcwi
SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin
ameliorates
IMP
RGD
PMID:27270176
RGD:12792230
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Sod3
superoxide dismutase 3
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
NCBI chr14:62,822,865...62,828,602
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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Trpc6
transient receptor potential cation channel, subfamily C, member 6
induces
IMP
compared to wild type vehicle-treated control
RGD
PMID:29923767
RGD:149735534
NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092
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Trpc6em1Mcwi
transient receptor potential cation channel, subfamily C, member 6; CRISPR/Cas9 induced mutant 1, Medical College of Wisconsin
induces
IMP
compared to wild type vehicle-treated control
RGD
PMID:29923767
RGD:149735534
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Ahr
aryl hydrocarbon receptor
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
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Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
G
Ahr
aryl hydrocarbon receptor
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
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Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
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Nek8
NIMA-related kinase 8
IAGP
compared to control Lewis
RGD
PMID:22899815
RGD:40924667
NCBI chr10:63,558,940...63,570,954
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 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334
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Ahr
aryl hydrocarbon receptor
sexual_dimorphism
IMP
females compared to Hsd:SD females
RGD
PMID:23859880
RGD:13204753
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
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Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
sexual_dimorphism
IMP
females compared to Hsd:SD females
RGD
PMID:23859880
RGD:13204753
G
Anks6
ankyrin repeat and sterile alpha motif domain containing 6
IAGP
compared to PKD
RGD
PMID:7933831
RGD:1300446
NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
G
Anks6PKD
ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease
IAGP
compared to PKD
RGD
PMID:7933831
RGD:1300446
G
Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:58,300,069...58,315,725
Ensembl chr10:57,801,456...57,817,120
G
Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IMP
compared to wild type
RGD
PMID:26077568
RGD:13800514
NCBI chr19:50,307,569...50,312,812
Ensembl chr19:33,397,656...33,402,899
G
Hsd11b2em1Jmul
hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul
IMP
compared to wild type
RGD
PMID:26077568
RGD:13800514
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Mc4r
melanocortin 4 receptor
IMP
RGD
PMID:24400148
RGD:13825242
NCBI chr18:62,689,798...62,691,685
Ensembl chr18:60,419,832...60,421,719
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Mc4rm1Hubr
melanocortin 4 receptor; ENU induced mutation 1, Hubr
IMP
RGD
PMID:24400148
RGD:13825242
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
NCBI chr 7:134,247,153...134,268,044
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 FHH
RGD
PMID:24722447
RGD:12910103
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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:30705305 PMID:11095650 PMID:15052665
RGD:14995942 , RGD:1300514 , RGD:15014788
NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334
G
Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:30705305 PMID:15052665
RGD:14995942 , RGD:15014788
G
Col4a5
collagen type IV alpha 5 chain
IMP
RGD
PMID:34675305
RGD:329845598
NCBI chr X:109,907,251...110,111,214
Ensembl chr X:105,118,820...105,322,692
G
Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:30278832
RGD:401960095
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
G
Ednra
endothelin receptor type A
IMP
RGD
PMID:12538737
RGD:1581844
NCBI chr19:47,137,360...47,207,961
Ensembl chr19:30,233,571...30,297,049
G
Ednrb
endothelin receptor type B
IMP
RGD
PMID:12538737
RGD:1581844
NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115
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Vdr
vitamin D receptor
IMP
RGD
PMID:32231239
RGD:32716373
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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Vdrem2Thka
vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka
IMP
RGD
PMID:32231239
RGD:32716373
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Mecp2
methyl CpG binding protein 2
IMP
RGD
PMID:27313794
RGD:11568037
NCBI chr X:156,932,481...156,995,981
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
RGD
PMID:27313794
RGD:11568037
G
Lepr
leptin receptor
IMP
RGD
PMID:27465994
RGD:12911217
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
G
Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:27465994
RGD:12911217
G
Add3
adducin 3
IMP
RGD
PMID:32029431
RGD:150340736
NCBI chr 1:262,152,722...262,260,504
Ensembl chr 1:252,147,386...252,255,124
G
Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:30278832 PMID:10901178 PMID:28746409
RGD:401960095 , RGD:401965414 , RGD:401965413
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
G
Sod3
superoxide dismutase 3
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
NCBI chr14:62,822,865...62,828,602
Ensembl chr14:58,609,958...58,615,990
G
Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
G
Add3
adducin 3
IMP
RGD
PMID:32029431
RGD:150340736
NCBI chr 1:262,152,722...262,260,504
Ensembl chr 1:252,147,386...252,255,124
G
Egfr
epidermal growth factor receptor
IDA
RGD
PMID:15033924
RGD:1581909
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Mir146b
microRNA 146b
sexual_dimorphism
IMP
RGD
PMID:31668631
RGD:127285407
NCBI chr 1:255,144,860...255,144,947
Ensembl chr 1:245,203,438...245,203,525
G
Mir146bem1Mcwi
microRNA 146b; CRISPR/Cas9 induced mutant 1, Mcwi
sexual_dimorphism
IMP
RGD
PMID:31668631
RGD:127285407
G
Sod3
superoxide dismutase 3
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
NCBI chr14:62,822,865...62,828,602
Ensembl chr14:58,609,958...58,615,990
G
Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
G
Gla
galactosidase, alpha
onset
IMP
RGD
PMID:29979634
RGD:401976416
NCBI chr X:102,062,497...102,073,915
Ensembl chr X:97,768,996...97,780,664
G
Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
onset
IMP
RGD
PMID:29979634
RGD:401976416
G
Col4a5
collagen type IV alpha 5 chain
IMP
RGD
PMID:34675305
RGD:329845598
NCBI chr X:109,907,251...110,111,214
Ensembl chr X:105,118,820...105,322,692
G
Lepr
leptin receptor
treatment
IAGP
compared to ad lib fed rats; increased desmin, fibronectin and collagenase
RGD
PMID:11500530
RGD:628581
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
G
Leprfa
leptin receptor; fa mutant
treatment
IAGP
compared to ad lib fed rats; increased desmin, fibronectin and collagenase
RGD
PMID:11500530
RGD:628581
G
Sod3
superoxide dismutase 3
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
NCBI chr14:62,822,865...62,828,602
Ensembl chr14:58,609,958...58,615,990
G
Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
G
Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:30278832
RGD:401960095
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
G
Ednra
endothelin receptor type A
IMP
RGD
PMID:12538737
RGD:1581844
NCBI chr19:47,137,360...47,207,961
Ensembl chr19:30,233,571...30,297,049
G
Ednrb
endothelin receptor type B
IMP
RGD
PMID:12538737
RGD:1581844
NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115
G
Lepr
leptin receptor
disease_progression
IMP IAGP
compared to SS/JrHsdMcwi DNA:mutations:cds: : (rat)
RGD
PMID:27465994 PMID:10901178 PMID:30278832
RGD:12911217 , RGD:401965414 , RGD:401960095
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
G
Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
disease_progression
IMP
compared to SS/JrHsdMcwi
RGD
PMID:27465994
RGD:12911217
G
Mmp2
matrix metallopeptidase 2
ameliorates
IMP
compared to wild type SS
RGD
PMID:37643020
RGD:401827835
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
G
Mmp2em2Mcwi
matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
ameliorates
IMP
compared to wild type SS
RGD
PMID:37643020
RGD:401827835
G
Nr4a1
nuclear receptor subfamily 4, group A, member 1
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
NCBI chr 7:134,247,153...134,268,044
Ensembl chr 7:132,374,840...132,389,297
G
Nr4a1m1Mcwi
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
G
Sod3
superoxide dismutase 3
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
NCBI chr14:62,822,865...62,828,602
Ensembl chr14:58,609,958...58,615,990
G
Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
G
Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:58,300,069...58,315,725
Ensembl chr10:57,801,456...57,817,120
G
Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:10901178
RGD:401965414
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
G
Mir542
microRNA 542
ameliorates
IMP
RGD
PMID:32470449
RGD:401900731
NCBI chr X:137,722,176...137,722,254
Ensembl chr X:132,802,623...132,802,701
G
Edaradd
EDAR associated via death domain
IAGP
DNA:missense mutation:exon:p.Pro153Ser(rat)
RGD
PMID:22013926
RGD:14398762
NCBI chr17:92,850,791...92,894,808
Ensembl chr17:85,656,905...85,910,447
G
EdaraddswhKyo
EDAR-associated death domain;swh Kyo mutant
IAGP
DNA:missense mutation:exon:p.Pro153Ser(rat)
RGD
PMID:22013926
RGD:14398762
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all