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Details
Link-It Detail - Jax Mouse Phenotype - abnormal alveolar lamellar body morphology
Debug Stats
  • ### Total Build Time: 38 ms 35.143 KB
  • CONCEPT_NAME gt=17 ms Completed: 17 ms rowSize= 412 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 346 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=0 Completed: 0 ms rowSize= 593 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.421 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.942 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 27.136 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.180 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal alveolar lamellar body morphology MP:0010813
Definition (1)
any structural anomaly of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant
Parents (1)
img abnormal type II pneumocyte morphology MP:0002275
Children (5)
img absent alveolar lamellar bodies MP:0010814
img enlarged alveolar lamellar bodies MP:0010815
img small alveolar lamellar bodies MP:0010889
img decreased alveolar lamellar body number MP:0010890
img increased alveolar lamellar body number MP:0010891
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img respiratory system phenotype MP:000538811img abnormal type II pneumocyte morphology MP:0002275
img mammalian phenotype MP:0000001img respiratory system phenotype MP:00053889img abnormal type II pneumocyte morphology MP:0002275
Genes (27)

Species:
human : 27
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGPR116221395G protein-coupled receptor 116
INFERRED
HumanTMEM38B55151transmembrane protein 38B
img Jax MP, Pubmed Id: 17464327, MOUSE PHENOTYPE ID: MGI:95835
img Jax MP, Pubmed Id: 17577581, MOUSE PHENOTYPE ID: MGI:1351617
img Jax MP, Pubmed Id: 20060823, MOUSE PHENOTYPE ID: MGI:99473
img Jax MP, Pubmed Id: 17267394, MOUSE PHENOTYPE ID: MGI:1351617
img Jax MP, Pubmed Id: 12053176, MOUSE PHENOTYPE ID: MGI:109169
img Jax MP, Pubmed Id: 19515693, MOUSE PHENOTYPE ID: MGI:1098718
HumanABCA1226154ATP-binding cassette, sub-family A (ABC1), member 12
INFERRED
HumanCBY125776chibby homolog 1 (Drosophila)
INFERRED
HumanRAB3823682RAB38, member RAS oncogene family
INFERRED
HumanFSTL111167follistatin-like 1
INFERRED
HumanCITED210370Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
INFERRED
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
INFERRED
HumanSFTPC6440surfactant protein C
INFERRED
HumanSFTPB6439surfactant protein B
INFERRED
HumanPTHLH5744parathyroid hormone-like hormone
INFERRED
HumanPTEN5728phosphatase and tensin homolog
INFERRED
HumanNOS34846nitric oxide synthase 3 (endothelial cell)
INFERRED
HumanNDST13340N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
INFERRED
HumanHSPA53309heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
img Jax MP, Pubmed Id: 12053176, MOUSE PHENOTYPE ID: MGI:109169
img Jax MP, Pubmed Id: 19515693, MOUSE PHENOTYPE ID: MGI:1098718
img Jax MP, Pubmed Id: 17267394, MOUSE PHENOTYPE ID: MGI:1351617
img Jax MP, Pubmed Id: 17464327, MOUSE PHENOTYPE ID: MGI:95835
img Jax MP, Pubmed Id: 17577581, MOUSE PHENOTYPE ID: MGI:1351617
img Jax MP, Pubmed Id: 20060823, MOUSE PHENOTYPE ID: MGI:99473
HumanHSD11B13290hydroxysteroid (11-beta) dehydrogenase 1
INFERRED
HumanHPS13257Hermansky-Pudlak syndrome 1
INFERRED
HumanFOXA23170forkhead box A2
INFERRED
HumanGATA62627GATA binding protein 6
INFERRED
HumanFOXM12305forkhead box M1
INFERRED
HumanEPAS12034endothelial PAS domain protein 1
img Jax MP, Pubmed Id: 17577581, MOUSE PHENOTYPE ID: MGI:1351617
img Jax MP, Pubmed Id: 19515693, MOUSE PHENOTYPE ID: MGI:1098718
img Jax MP, Pubmed Id: 17464327, MOUSE PHENOTYPE ID: MGI:95835
img Jax MP, Pubmed Id: 20060823, MOUSE PHENOTYPE ID: MGI:99473
img Jax MP, Pubmed Id: 12053176, MOUSE PHENOTYPE ID: MGI:109169
img Jax MP, Pubmed Id: 17267394, MOUSE PHENOTYPE ID: MGI:1351617
HumanEGFR1956epidermal growth factor receptor
INFERRED
HumanCTGF1490connective tissue growth factor
INFERRED
HumanLYST1130lysosomal trafficking regulator
INFERRED
HumanKLF5688Kruppel-like factor 5 (intestinal)
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0010813abnormal alveolar lamellar body morphology0self