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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 nephron morphology
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Accession:MP:0003881 term browser browse the term
Definition:any structural anomaly of the filtering unit of the kidney that includes the renal corpuscle, proximal and distal convoluted tubules, and loop of Henle


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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 chr19:50,307,569...50,312,812
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 5:121,409,735...121,593,201
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 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 chr10:58,300,069...58,315,725
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G 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 		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 1:262,152,722...262,260,504
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:109,907,251...110,111,214
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter IMP RGD PMID:35695380 RGD:155630629 NCBI chr10:58,300,069...58,315,725
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G 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 		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 chr16:76,654,725...76,726,092
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP RGD PMID:11509115 RGD:1302456
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 chr10:58,300,069...58,315,725
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
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 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908 		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 5:121,409,735...121,593,201
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 1:164,764,119...164,779,578
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 chr19:47,137,360...47,207,961
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 5:121,409,735...121,593,201
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 chr19:30,327,643...30,355,856
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 2:177,135,649...177,147,257
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 chr14:62,822,865...62,828,602
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 8:14,044,216...14,148,808
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
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:109,907,251...110,111,214
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 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
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 5:121,409,735...121,593,201
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 1:262,152,722...262,260,504
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 5:121,409,735...121,593,201
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 chr14:62,822,865...62,828,602
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:102,062,497...102,073,915
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:109,907,251...110,111,214
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 5:121,409,735...121,593,201
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 chr14:62,822,865...62,828,602
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 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
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 chr10:58,300,069...58,315,725
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 5:121,409,735...121,593,201
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:137,722,176...137,722,254
Ensembl chr  X:132,802,623...132,802,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5428
    renal/urinary system phenotype 652
      abnormal renal/urinary system morphology 279
        abnormal kidney morphology 272
          abnormal nephron morphology 118
            abnormal nephron morphogenesis + 0
            abnormal nephron number + 0
            abnormal renal corpuscle morphology + 108
            abnormal renal tubule morphology + 16
            absent nephron 0
            dilated nephron 0
            nephron necrosis 0
            renal cast 15
paths to the root