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Details
Link-It Detail - Jax Mouse Phenotype - abnormal kidney epithelial cell primary cilium morphology
Debug Stats
  • ### Total Build Time: 28 ms 30.806 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 442 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 342 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 214 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 592 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 620 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 1.589 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 25.720 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.194 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal kidney epithelial cell primary cilium morphology MP:0011065
Definition (1)
any structural anomaly of the single non-motile cilium of a kidney epithelial cell that projects into the luminal space of the tubules and ducts where it is thought to act as a flow sensor
Synonyms (1)
"abnormal renal epithelial cell primary cilium morphology" EXACT
Parents (1)
img abnormal kidney epithelium morphology MP:0004967
Children (1)
img abnormal renal tubule epithelial cell primary cilium morphology MP:0011066
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img renal/urinary system phenotype MP:00053676img abnormal kidney epithelium morphology MP:0004967
Genes (16)

Species:
human : 16
SpeciesGeneGeneIdGene NameEvidence
HumanGLIS3169792GLIS family zinc finger 3
INFERRED
HumanTMEM6791147transmembrane protein 67
INFERRED
HumanINPP5E56623inositol polyphosphate-5-phosphatase, 72 kDa
INFERRED
HumanMKS154903Meckel syndrome, type 1
img Jax MP, Pubmed Id: 21045211, MOUSE PHENOTYPE ID: MGI:3584243
img Jax MP, Pubmed Id: 22282595, MOUSE PHENOTYPE ID: MGI:2146906
img Jax MP, Pubmed Id: 18981227, MOUSE PHENOTYPE ID: MGI:1915585
img Jax MP, Pubmed Id: 12672950, MOUSE PHENOTYPE ID: MGI:107689
img Jax MP, Pubmed Id: 23064367, MOUSE PHENOTYPE ID: MGI:97603
img Jax MP, Pubmed Id: 19211713, MOUSE PHENOTYPE ID: MGI:2183341
HumanB9D127077B9 protein domain 1
INFERRED
HumanNPHP327031nephronophthisis 3 (adolescent)
INFERRED
HumanWWTR125937WW domain containing transcription regulator 1
INFERRED
HumanKIF3A11127kinesin family member 3A
img Jax MP, Pubmed Id: 22282595, MOUSE PHENOTYPE ID: MGI:2146906
img Jax MP, Pubmed Id: 12672950, MOUSE PHENOTYPE ID: MGI:107689
img Jax MP, Pubmed Id: 19211713, MOUSE PHENOTYPE ID: MGI:2183341
img Jax MP, Pubmed Id: 23064367, MOUSE PHENOTYPE ID: MGI:97603
img Jax MP, Pubmed Id: 18981227, MOUSE PHENOTYPE ID: MGI:1915585
img Jax MP, Pubmed Id: 21045211, MOUSE PHENOTYPE ID: MGI:3584243
HumanIFT1409742intraflagellar transport 140 homolog (Chlamydomonas)
img Jax MP, Pubmed Id: 19211713, MOUSE PHENOTYPE ID: MGI:2183341
img Jax MP, Pubmed Id: 18981227, MOUSE PHENOTYPE ID: MGI:1915585
img Jax MP, Pubmed Id: 22282595, MOUSE PHENOTYPE ID: MGI:2146906
img Jax MP, Pubmed Id: 12672950, MOUSE PHENOTYPE ID: MGI:107689
img Jax MP, Pubmed Id: 21045211, MOUSE PHENOTYPE ID: MGI:3584243
img Jax MP, Pubmed Id: 23064367, MOUSE PHENOTYPE ID: MGI:97603
HumanIFT888100intraflagellar transport 88 homolog (Chlamydomonas)
INFERRED
HumanALMS17840Alstrom syndrome 1
INFERRED
HumanVHL7428von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
INFERRED
HumanPKHD15314polycystic kidney and hepatic disease 1 (autosomal recessive)
INFERRED
HumanPKD15310polycystic kidney disease 1 (autosomal dominant)
img Jax MP, Pubmed Id: 18981227, MOUSE PHENOTYPE ID: MGI:1915585
img Jax MP, Pubmed Id: 21045211, MOUSE PHENOTYPE ID: MGI:3584243
img Jax MP, Pubmed Id: 12672950, MOUSE PHENOTYPE ID: MGI:107689
img Jax MP, Pubmed Id: 19211713, MOUSE PHENOTYPE ID: MGI:2183341
img Jax MP, Pubmed Id: 22282595, MOUSE PHENOTYPE ID: MGI:2146906
img Jax MP, Pubmed Id: 23064367, MOUSE PHENOTYPE ID: MGI:97603
HumanCTNND11500catenin (cadherin-associated protein), delta 1
INFERRED
HumanBBS4585Bardet-Biedl syndrome 4
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0011065abnormal kidney epithelial cell primary cilium morphology0self