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Protein Coding Gene : Snx17 sorting nexin 17

Primary Identifier  MGI:2387801 Organism  mouse, laboratory
Chromosome  5 NCBI Gene Number  266781
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable low-density lipoprotein particle receptor binding activity and phosphatidylinositol binding activity. Acts upstream of or within circulatory system development; kidney development; and receptor-mediated endocytosis. Located in endosome. Orthologous to human SNX17 (sorting nexin 17).
PHENOTYPE: Mice homozygous for an ENU_induced mutation exhibit double outlet right ventricle (DORV)/overriding aorta (Ao) and atrioventricular septal defect (AVSD). Noncardiac phenotypes include anopthalmia and duplex kidneys. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA 5830447M19 gene,
  • Snx17,
  • MGI:2140966,
  • MGI:5489919,
  • mKIAA0064,
  • DNA segment, Chr 5, ERATO Doi 260, expressed,
  • 5830447M19Rik,
  • MGI:1923317,
  • expressed sequence AI790646,
  • Mutant line 1625.1,
  • AI790646,
  • b2b1625.1Clo,
  • MGI:1098612,
  • sorting nexin 17,
  • D5Ertd260e

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Genome

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5 Involved In Mutations

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

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Proteins

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Mouse features --> Functions (GO terms)

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Disease

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