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Details
Link-It Detail - Jax Mouse Phenotype - abnormal distal convoluted tubule morphology
Debug Stats
  • ### Total Build Time: 21 ms 39.020 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 416 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 451 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 587 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.034 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.584 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 33.655 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.182 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal distal convoluted tubule morphology MP:0004757
Definition (1)
any structural anomaly of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex; it is partly responsible for the regulation of potassium, sodium, calcium, and pH through the endocrine system
Parents (1)
img abnormal renal tubule morphology MP:0002703
Children (2)
img dilated distal convoluted tubules MP:0009051
img abnormal macula densa morphology MP:0011299
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img renal/urinary system phenotype MP:00053677img abnormal renal tubule morphology MP:0002703
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanTFCP2L129842transcription factor CP2-like 1
img Jax MP, Pubmed Id: 10498891, MOUSE PHENOTYPE ID: MGI:2178103
img Jax MP, Pubmed Id: 8951069, MOUSE PHENOTYPE ID: MGI:96602
img Jax MP, Pubmed Id: 12925600, MOUSE PHENOTYPE ID: MGI:102564
img Jax MP, Pubmed Id: 9786924, MOUSE PHENOTYPE ID: MGI:108114
img Jax MP, Pubmed Id: 17079272, MOUSE PHENOTYPE ID: MGI:2444691
img Jax MP, Pubmed Id: 9013703, MOUSE PHENOTYPE ID: MGI:103302
HumanNPHP327031nephronophthisis 3 (adolescent)
INFERRED
HumanWWTR125937WW domain containing transcription regulator 1
INFERRED
HumanSLC12A36559solute carrier family 12 (sodium/chloride transporter), member 3
img Jax MP, Pubmed Id: 12925600, MOUSE PHENOTYPE ID: MGI:102564
img Jax MP, Pubmed Id: 8951069, MOUSE PHENOTYPE ID: MGI:96602
img Jax MP, Pubmed Id: 17079272, MOUSE PHENOTYPE ID: MGI:2444691
img Jax MP, Pubmed Id: 9013703, MOUSE PHENOTYPE ID: MGI:103302
img Jax MP, Pubmed Id: 10498891, MOUSE PHENOTYPE ID: MGI:2178103
img Jax MP, Pubmed Id: 9786924, MOUSE PHENOTYPE ID: MGI:108114
HumanREN5972renin
INFERRED
HumanPOU3F35455POU class 3 homeobox 3
img Jax MP, Pubmed Id: 8951069, MOUSE PHENOTYPE ID: MGI:96602
img Jax MP, Pubmed Id: 9786924, MOUSE PHENOTYPE ID: MGI:108114
img Jax MP, Pubmed Id: 10498891, MOUSE PHENOTYPE ID: MGI:2178103
img Jax MP, Pubmed Id: 17079272, MOUSE PHENOTYPE ID: MGI:2444691
img Jax MP, Pubmed Id: 9013703, MOUSE PHENOTYPE ID: MGI:103302
img Jax MP, Pubmed Id: 12925600, MOUSE PHENOTYPE ID: MGI:102564
HumanNPHS14868nephrosis 1, congenital, Finnish type (nephrin)
INFERRED
HumanNR3C24306nuclear receptor subfamily 3, group C, member 2
INFERRED
HumanITGA33675integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
img Jax MP, Pubmed Id: 17079272, MOUSE PHENOTYPE ID: MGI:2444691
img Jax MP, Pubmed Id: 9013703, MOUSE PHENOTYPE ID: MGI:103302
img Jax MP, Pubmed Id: 8951069, MOUSE PHENOTYPE ID: MGI:96602
img Jax MP, Pubmed Id: 12925600, MOUSE PHENOTYPE ID: MGI:102564
img Jax MP, Pubmed Id: 10498891, MOUSE PHENOTYPE ID: MGI:2178103
img Jax MP, Pubmed Id: 9786924, MOUSE PHENOTYPE ID: MGI:108114
HumanHSD11B23291hydroxysteroid (11-beta) dehydrogenase 2
INFERRED
HumanFGFR22263fibroblast growth factor receptor 2
INFERRED
HumanCTNND11500catenin (cadherin-associated protein), delta 1
INFERRED
HumanBMP7655bone morphogenetic protein 7
img Jax MP, Pubmed Id: 9013703, MOUSE PHENOTYPE ID: MGI:103302
img Jax MP, Pubmed Id: 12925600, MOUSE PHENOTYPE ID: MGI:102564
img Jax MP, Pubmed Id: 9786924, MOUSE PHENOTYPE ID: MGI:108114
img Jax MP, Pubmed Id: 10498891, MOUSE PHENOTYPE ID: MGI:2178103
img Jax MP, Pubmed Id: 8951069, MOUSE PHENOTYPE ID: MGI:96602
img Jax MP, Pubmed Id: 17079272, MOUSE PHENOTYPE ID: MGI:2444691
HumanBCL2596B-cell CLL/lymphoma 2
INFERRED
HumanARHGDIA396Rho GDP dissociation inhibitor (GDI) alpha
img Jax MP, Pubmed Id: 12925600, MOUSE PHENOTYPE ID: MGI:102564
img Jax MP, Pubmed Id: 8951069, MOUSE PHENOTYPE ID: MGI:96602
img Jax MP, Pubmed Id: 9786924, MOUSE PHENOTYPE ID: MGI:108114
img Jax MP, Pubmed Id: 10498891, MOUSE PHENOTYPE ID: MGI:2178103
img Jax MP, Pubmed Id: 9013703, MOUSE PHENOTYPE ID: MGI:103302
img Jax MP, Pubmed Id: 17079272, MOUSE PHENOTYPE ID: MGI:2444691
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0004757abnormal distal convoluted tubule morphology0self