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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 proximal convoluted tubule morphology
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Accession:MP:0004756 term browser browse the term
Definition:any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes; the most distinctive characteristic of the proximal tubule is its brush border (or striated border), not found in the distal convoluted tubule
Synonyms:exact_synonym: abnormal proximal kidney tubule;   abnormal proximal renal tubule;   abnormal proximal tubule


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abnormal proximal convoluted tubule morphology term browser
Symbol Object Name 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
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  mammalian phenotype 5402
    renal/urinary system phenotype 649
      abnormal renal/urinary system morphology 279
        abnormal kidney morphology 272
          abnormal nephron morphology 118
            abnormal renal tubule morphology 16
              abnormal proximal convoluted tubule morphology 4
                abnormal proximal convoluted tubule brush border morphology + 0
                dilated proximal convoluted tubule 0
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