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Details
Link-It Detail - Jax Mouse Phenotype - abnormal strial intermediate cell morphology
Debug Stats
  • ### Total Build Time: 21 ms 29.231 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 416 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 495 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 202 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
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  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 589 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 5.622 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 19.135 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.182 KB
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Jax Mouse Phenotype (1)
abnormal strial intermediate cell morphology MP:0004367
Definition (1)
any structural anomaly in the melanocytes known to migrate from the neural crest during ontogeny to become located between the epithelial marginal cell layer and the mesodermal basal cell layer within the intrastrial space; the predominant cellular component of the electrogenic machinery that generates an endocochlear potential (80-100 mV)
Synonyms (1)
"abnormal stria vascularis intermediate cells" BROAD
Parents (3)
img abnormal otic pigmentation MP:0009390
img abnormal stria vascularis morphology MP:0000048
img abnormal melanocyte morphology MP:0002877
Children (1)
img absent strial intermediate cells MP:0006010
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img pigmentation phenotype MP:00011865img abnormal otic pigmentation MP:0009390
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:00053778img abnormal stria vascularis morphology MP:0000048
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:00053779img abnormal stria vascularis morphology MP:0000048
img mammalian phenotype MP:0000001img pigmentation phenotype MP:00011864img abnormal melanocyte morphology MP:0002877
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanS1PR29294sphingosine-1-phosphate receptor 2
img Jax MP, Pubmed Id: 15320950
img Jax MP, Pubmed Id: 14690057
img Jax MP, Pubmed Id: 12040033, MOUSE PHENOTYPE ID: MGI:102570
img Jax MP, Pubmed Id: 8248019, MOUSE PHENOTYPE ID: MGI:98881
img Jax MP, Pubmed Id: 1416659, MOUSE PHENOTYPE ID: MGI:95484
img Jax MP, Pubmed Id: 17284444, MOUSE PHENOTYPE ID: MGI:99569
HumanTYRP17306tyrosinase-related protein 1
img Jax MP, Pubmed Id: 15320950
img Jax MP, Pubmed Id: 14690057
img Jax MP, Pubmed Id: 12040033, MOUSE PHENOTYPE ID: MGI:102570
img Jax MP, Pubmed Id: 17284444, MOUSE PHENOTYPE ID: MGI:99569
img Jax MP, Pubmed Id: 8248019, MOUSE PHENOTYPE ID: MGI:98881
img Jax MP, Pubmed Id: 1416659, MOUSE PHENOTYPE ID: MGI:95484
HumanNDP4693Norrie disease (pseudoglioma)
img Jax MP, Pubmed Id: 17284444, MOUSE PHENOTYPE ID: MGI:99569
img Jax MP, Pubmed Id: 15320950
img Jax MP, Pubmed Id: 8248019, MOUSE PHENOTYPE ID: MGI:98881
img Jax MP, Pubmed Id: 1416659, MOUSE PHENOTYPE ID: MGI:95484
img Jax MP, Pubmed Id: 12040033, MOUSE PHENOTYPE ID: MGI:102570
img Jax MP, Pubmed Id: 14690057
HumanMITF4286microphthalmia-associated transcription factor
INFERRED
HumanKIT3815v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
INFERRED
HumanEDNRB1910endothelin receptor type B
INFERRED
HumanFAS355Fas cell surface death receptor
img Jax MP, Pubmed Id: 17284444, MOUSE PHENOTYPE ID: MGI:99569
img Jax MP, Pubmed Id: 8248019, MOUSE PHENOTYPE ID: MGI:98881
img Jax MP, Pubmed Id: 12040033, MOUSE PHENOTYPE ID: MGI:102570
img Jax MP, Pubmed Id: 14690057
img Jax MP, Pubmed Id: 1416659, MOUSE PHENOTYPE ID: MGI:95484
img Jax MP, Pubmed Id: 15320950
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0004367abnormal strial intermediate cell morphology0self