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Details
Link-It Detail - Jax Mouse Phenotype - abnormal basement membrane morphology
Debug Stats
  • ### Total Build Time: 123 ms 22.014 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 402 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 533 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 185 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=6 ms Completed: 6 ms rowSize= 579 bytes
  • CONCEPT_CHILDREN gt=8 ms Completed: 8 ms rowSize= 1.510 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=8 ms Completed: 8 ms rowSize= 1.562 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=89 ms Completed: 89 ms rowSize= 15.964 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.175 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal basement membrane morphology MP:0004272
Definition (1)
anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis
Synonyms (1)
"basement membrane dysplasia" EXACT
Parents (1)
img other aberrant phenotype MP:0002168
Children (3)
img impaired basement membrane formation MP:0003044
img abnormal cochlear basement membrane morphology MP:0004598
img abnormal basal lamina morphology MP:0004273
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img other phenotype MP:00053954img other aberrant phenotype MP:0002168
Genes (36)

Species:
human : 36
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanISPD729920isoprenoid synthase domain containing
Click here to display 39 evidence detail records.
HumanRTL1388015retrotransposon-like 1
Click here to display 39 evidence detail records.
HumanCOL18A180781collagen, type XVIII, alpha 1
Click here to display 39 evidence detail records.
HumanFRAS180144Fraser syndrome 1
Click here to display 39 evidence detail records.
HumanRIC8A60626RIC8 guanine nucleotide exchange factor A
Click here to display 39 evidence detail records.
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Click here to display 39 evidence detail records.
HumanCRIM151232cysteine rich transmembrane BMP regulator 1 (chordin-like)
INFERRED
HumanPOMT229954protein-O-mannosyltransferase 2
Click here to display 39 evidence detail records.
HumanFLRT323767fibronectin leucine rich transmembrane protein 3
Click here to display 39 evidence detail records.
HumanB3GNT111041UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
Click here to display 39 evidence detail records.
HumanPLOD38985procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
INFERRED
HumanRECK8434reversion-inducing-cysteine-rich protein with kazal motifs
INFERRED
HumanSPINT16692serine peptidase inhibitor, Kunitz type 1
Click here to display 39 evidence detail records.
HumanP4HA15033prolyl 4-hydroxylase, alpha polypeptide I
INFERRED
HumanNID14811nidogen 1
Click here to display 39 evidence detail records.
HumanMYO7A4647myosin VIIA
INFERRED
HumanMMP144323matrix metallopeptidase 14 (membrane-inserted)
Click here to display 39 evidence detail records.
HumanLAMC23918laminin, gamma 2
INFERRED
HumanLAMC13915laminin, gamma 1 (formerly LAMB2)
Click here to display 39 evidence detail records.
HumanLAMA53911laminin, alpha 5
INFERRED
HumanLAMA43910laminin, alpha 4
INFERRED
HumanLAMA23908laminin, alpha 2
Click here to display 39 evidence detail records.
HumanITGB83696integrin, beta 8
INFERRED
HumanITGA63655integrin, alpha 6
Click here to display 39 evidence detail records.
HumanILK3611integrin-linked kinase
Click here to display 39 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0004272abnormal basement membrane morphology0self