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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
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Accession:MP:0000516 term browser 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;   urinary system dysplasia
 alt_id: MP:0000517



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abnormal distal convoluted tubule morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 IMP RGD PMID:26077568 RGD:13800514 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
JBrowse link
G Hsd11b2em1Jmul hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul IMP RGD PMID:26077568 RGD:13800514
abnormal glomerular filtration barrier morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor IMP RGD PMID:27465994 RGD:12911217 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:27465994 RGD:12911217
abnormal kidney medullary ray morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Ahrem2Sage aryl hydrocarbon receptor; ZFN induced mutant2, Sage IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753
abnormal kidney morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fh fumarate hydratase IMP RGD PMID:27556703 RGD:13792708 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
G Fhem1 fumarate hydratase; TALEN induced mutant 1 IMP RGD PMID:27556703 RGD:13792708
G Ren renin exacerbates IMP compared to wild type RGD PMID:21242461 RGD:7771614 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Renem1Mcwi renin; zinc finger nuclease induced mutant 1, Medical College of Wisconsin exacerbates IMP compared to wild type RGD PMID:21242461 RGD:7771614
abnormal proximal convoluted tubule morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Gla galactosidase, alpha IMP RGD PMID:29979634 RGD:401976416 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP RGD PMID:29979634 RGD:401976416
abnormal renal glomerulus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Col4a5 collagen type IV alpha 5 chain IMP RGD PMID:34675305 RGD:329845598 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G 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
JBrowse link
G P2ry2 purinergic receptor P2Y2 IMP RGD PMID:19155635 RGD:2316657 NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632
JBrowse link
abnormal renal tubule morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase copper transporting beta IAGP RGD PMID:11509115 RGD:1302456 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP RGD PMID:11509115 RGD:1302456
abnormal urothelium morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Ahrem2Sage aryl hydrocarbon receptor; ZFN induced mutant2, Sage IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753
accumulation of giant lysosomes in kidney/renal tubule cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
decreased kidney weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp2 matrix metallopeptidase 2 IMP associated Experimental Diabetes Mellitus, hypertension; compared to wild type SS RGD PMID:37643020 RGD:401827835 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G 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
G Nppc natriuretic peptide C IMP compared to wild type RGD PMID:29566041 RGD:127284867 NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
JBrowse link
G Nppcem3Kyo natriuretic peptide C; ZFN induced mutant 3, Kyo IMP compared to wild type RGD PMID:29566041 RGD:127284867
dilated kidney collecting duct term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Ahrem2Sage aryl hydrocarbon receptor; ZFN induced mutant2, Sage IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753
dilated renal tubule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor IAGP DNA:mutations:cds: : (rat) RGD PMID:10901178 RGD:401965414 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
enlarged kidney term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A IAGP RGD PMID:23569176 RGD:8657335 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G 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
JBrowse link
G Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease IAGP RGD PMID:7933831 RGD:1300446
G Odc1 ornithine decarboxylase 1 TAS RGD PMID:12716758 RGD:1578327 NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440
JBrowse link
expanded mesangial matrix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor IMP
IAGP
DNA:mutations:cds: : (rat) RGD PMID:26537785 PMID:30278832 RGD:12911216, RGD:401960095 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP RGD PMID:26537785 RGD:12911216
G P2ry2 purinergic receptor P2Y2 IMP RGD PMID:19155635 RGD:2316657 NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632
JBrowse link
glomerulosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A IDA RGD PMID:16157796 RGD:1581830 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Lepr leptin receptor disease_progression IMP
IAGP
DNA:mutations:cds: : (rat) RGD PMID:27465994 PMID:28746409 RGD:12911217, RGD:401965413 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin disease_progression IMP RGD PMID:27465994 RGD:12911217
G Mmp2 matrix metallopeptidase 2 ameliorates IMP compared to wild type SS RGD PMID:37643020 RGD:401827835 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
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 Shc1 SHC adaptor protein 1 ameliorates IMP RGD PMID:27270176 RGD:12792230 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G Shc1em4Mcwi SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin ameliorates IMP RGD PMID:27270176 RGD:12792230
G 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
JBrowse link
G Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin onset IMP compared to SS/JrHsdMcwi RGD PMID:31972339 RGD:150573712
G 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 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G 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
hydronephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Ahrem2Sage aryl hydrocarbon receptor; ZFN induced mutant2, Sage IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753
hydroureter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Ahrem2Sage aryl hydrocarbon receptor; ZFN induced mutant2, Sage IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753
increased kidney epithelial cell primary cilium length term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Nek8lpkArc NIMA-related kinase 8; lpk mutant, Arc IAGP compared to control Lewis RGD PMID:22899815 RGD:40924667
G 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
JBrowse link
increased kidney weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor sexual_dimorphism IMP females compared to Hsd:SD females RGD PMID:23859880 RGD:13204753 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G 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
JBrowse link
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 chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 IMP compared to wild type RGD PMID:26077568 RGD:13800514 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
JBrowse link
G Hsd11b2em1Jmul hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul IMP compared to wild type RGD PMID:26077568 RGD:13800514
G Mc4r melanocortin 4 receptor IMP RGD PMID:24400148 RGD:13825242 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
JBrowse link
G Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr IMP RGD PMID:24400148 RGD:13825242
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IMP compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
JBrowse link
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 Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 PMID:11095650 PMID:15052665 RGD:14995942, RGD:1300514, RGD:15014788 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 PMID:15052665 RGD:14995942, RGD:15014788
increased renal glomerulus basement membrane thickness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a5 collagen type IV alpha 5 chain IMP RGD PMID:34675305 RGD:329845598 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Lepr leptin receptor IAGP DNA:mutations:cds: : (rat) RGD PMID:30278832 RGD:401960095 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
kidney cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A IMP RGD PMID:12538737 RGD:1581844 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Ednrb endothelin receptor type B IMP RGD PMID:12538737 RGD:1581844 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
nephrolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vdr vitamin D receptor IMP RGD PMID:32231239 RGD:32716373 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vdrem2Thka vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka IMP RGD PMID:32231239 RGD:32716373
penis prolapse term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl CpG binding protein 2 IMP RGD PMID:27313794 RGD:11568037 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mecp2em1Sage methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:27313794 RGD:11568037
podocyte foot process effacement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor IMP RGD PMID:27465994 RGD:12911217 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:27465994 RGD:12911217
renal cast term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Lepr leptin receptor IAGP DNA:mutations:cds: : (rat) RGD PMID:30278832 PMID:10901178 PMID:28746409 RGD:401960095, RGD:401965414, RGD:401965413 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G 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
JBrowse link
G Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin onset IMP compared to SS/JrHsdMcwi RGD PMID:31972339 RGD:150573712
renal fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Egfr epidermal growth factor receptor IDA RGD PMID:15033924 RGD:1581909 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Mir146b microRNA 146b sexual_dimorphism IMP RGD PMID:31668631 RGD:127285407 NCBI chr 1:245,203,438...245,203,525
Ensembl chr 1:245,203,438...245,203,525
JBrowse link
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 chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin onset IMP compared to SS/JrHsdMcwi RGD PMID:31972339 RGD:150573712
renal glomerulus atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha onset IMP RGD PMID:29979634 RGD:401976416 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin onset IMP RGD PMID:29979634 RGD:401976416
renal glomerulus fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a5 collagen type IV alpha 5 chain IMP RGD PMID:34675305 RGD:329845598 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Lepr leptin receptor treatment IAGP compared to ad lib fed rats; increased desmin, fibronectin and collagenase RGD PMID:11500530 RGD:628581 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
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 chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin onset IMP compared to SS/JrHsdMcwi RGD PMID:31972339 RGD:150573712
renal glomerulus hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor IAGP DNA:mutations:cds: : (rat) RGD PMID:30278832 RGD:401960095 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
renal interstitial fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A IMP RGD PMID:12538737 RGD:1581844 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Ednrb endothelin receptor type B IMP RGD PMID:12538737 RGD:1581844 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
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 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
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 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
JBrowse link
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 chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin onset IMP compared to SS/JrHsdMcwi RGD PMID:31972339 RGD:150573712
renal tubule atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Lepr leptin receptor IAGP DNA:mutations:cds: : (rat) RGD PMID:10901178 RGD:401965414 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Mir542 microRNA 542 ameliorates IMP RGD PMID:32470449 RGD:401900731 NCBI chr  X:132,802,623...132,802,701
Ensembl chr  X:132,802,623...132,802,701
JBrowse link
small male preputial gland term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP DNA:missense mutation:exon:p.Pro153Ser(rat) RGD PMID:22013926 RGD:14398762

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  mammalian phenotype 5415
    renal/urinary system phenotype 649
      abnormal renal/urinary system morphology 279
        abnormal internal urethral orifice morphology 0
        abnormal kidney morphology + 272
        abnormal penis morphology + 6
        abnormal ureter morphology + 4
        abnormal ureteropelvic junction morphology + 0
        abnormal ureterovesical junction morphology + 0
        abnormal urethra morphology + 0
        abnormal urinary bladder morphology + 0
        abnormal urinary system development + 1
        abnormal urothelium morphology + 3
        decreased urinary system tumor incidence 0
        increased urinary system tumor incidence + 0
        persistent cloaca 0
        urolithiasis + 4
paths to the root