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Protein Coding Gene : Tspan12 tetraspanin 12

Primary Identifier  MGI:1889818 Organism  mouse, laboratory
Chromosome  6 NCBI Gene Number  269831
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Involved in cell surface receptor signaling pathway; regulation of angiogenesis; and retina layer formation. Acts upstream of or within Norrin signaling pathway and maintenance of blood-brain barrier. Located in plasma membrane. Is expressed in cerebral cortex ventricular layer and genitourinary system. Used to study exudative vitreoretinopathy. Human ortholog(s) of this gene implicated in exudative vitreoretinopathy 5. Orthologous to human TSPAN12 (tetraspanin 12).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. [provided by MGI curators]
  • synonyms:
  • expressed sequence AW111457,
  • MGI:2141646,
  • AW111457,
  • transmembrane 4 superfamily member 12,
  • expressed sequence AI663988,
  • AI426782,
  • Tm4sf12,
  • AI663988,
  • Tspan12,
  • EST AI426782,
  • MGI:2141465,
  • tetraspanin 12

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Proteins

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Mouse features --> Functions (GO terms)

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