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Details
Link-It Detail - Jax Mouse Phenotype - abnormal glomerular filtration barrier function
Debug Stats
  • ### Total Build Time: 9 ms 26.158 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 422 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 851 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 183 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=3 ms Completed: 3 ms rowSize= 581 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.578 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 21.254 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.185 KB
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  • Reload Stats
Jax Mouse Phenotype (1)
abnormal glomerular filtration barrier function MP:0011856
Definition (1)
anomaly in the function of the highly specialized blood filtration interface that displays a high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules; its integrity is maintained by physicochemical and signalling interplay among its three core constituents -- the fenestrated endothelium of the glomerular capillaries, the glomerular basement membrane, and the filtration slits of the visceral epithelial cell (podocyte); the barrier permits the passage of water, ions, and small molecules from the bloodstream into the Bowman's space and prevents the loss of large and/or negatively charged proteins (e.g. serum albumin) from blood into urine
Synonyms (1)
"abnormal GFB permeability" EXACT
Parents (1)
img abnormal kidney physiology MP:0002136
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img renal/urinary system phenotype MP:00053675img abnormal kidney physiology MP:0002136
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanCRIM151232cysteine rich transmembrane BMP regulator 1 (chordin-like)
img Jax MP, Pubmed Id: 21356376, MOUSE PHENOTYPE ID: MGI:1351338
img Jax MP, Pubmed Id: 19776720, MOUSE PHENOTYPE ID: MGI:1354756
img Jax MP, Pubmed Id: 7670489, MOUSE PHENOTYPE ID: MGI:99916
img Jax MP, Pubmed Id: 16611717, MOUSE PHENOTYPE ID: MGI:1195267
img Jax MP, Pubmed Id: 16525419, MOUSE PHENOTYPE ID: MGI:109601
HumanNCK14690NCK adaptor protein 1
img Jax MP, Pubmed Id: 16611717, MOUSE PHENOTYPE ID: MGI:1195267
img Jax MP, Pubmed Id: 19776720, MOUSE PHENOTYPE ID: MGI:1354756
img Jax MP, Pubmed Id: 16525419, MOUSE PHENOTYPE ID: MGI:109601
img Jax MP, Pubmed Id: 7670489, MOUSE PHENOTYPE ID: MGI:99916
img Jax MP, Pubmed Id: 21356376, MOUSE PHENOTYPE ID: MGI:1351338
HumanLAMB23913laminin, beta 2 (laminin S)
img Jax MP, Pubmed Id: 21356376, MOUSE PHENOTYPE ID: MGI:1351338
img Jax MP, Pubmed Id: 16525419, MOUSE PHENOTYPE ID: MGI:109601
img Jax MP, Pubmed Id: 16611717, MOUSE PHENOTYPE ID: MGI:1195267
img Jax MP, Pubmed Id: 19776720, MOUSE PHENOTYPE ID: MGI:1354756
img Jax MP, Pubmed Id: 7670489, MOUSE PHENOTYPE ID: MGI:99916
HumanILK3611integrin-linked kinase
img Jax MP, Pubmed Id: 7670489, MOUSE PHENOTYPE ID: MGI:99916
img Jax MP, Pubmed Id: 16525419, MOUSE PHENOTYPE ID: MGI:109601
img Jax MP, Pubmed Id: 21356376, MOUSE PHENOTYPE ID: MGI:1351338
img Jax MP, Pubmed Id: 19776720, MOUSE PHENOTYPE ID: MGI:1354756
img Jax MP, Pubmed Id: 16611717, MOUSE PHENOTYPE ID: MGI:1195267
HumanGRM12911glutamate receptor, metabotropic 1
img Jax MP, Pubmed Id: 16611717, MOUSE PHENOTYPE ID: MGI:1195267
img Jax MP, Pubmed Id: 21356376, MOUSE PHENOTYPE ID: MGI:1351338
img Jax MP, Pubmed Id: 7670489, MOUSE PHENOTYPE ID: MGI:99916
img Jax MP, Pubmed Id: 19776720, MOUSE PHENOTYPE ID: MGI:1354756
img Jax MP, Pubmed Id: 16525419, MOUSE PHENOTYPE ID: MGI:109601
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0011856abnormal glomerular filtration barrier function0self