Mine Disruption Phenotype

Gene Info

  • Species:Mouse (Mus musculus)
  • GeneID:242585
  • Symbol:Slc35d1
  • Description:solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1
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Gene ID Entry Entry Name Protein Name Type Information
242585 A2AKQ0 S35D1_MOUSE Nucleotide sugar transporter SLC35D1 (Solute carrier family 35 member D1) (UDP-galactose transporter-related protein 7) (UGTrel7) (UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter) (UDP-GlcA/UDP-GalNAc transporter) DISRUPTION PHENOTYPE Neonatal lethality. Skeletal development is severely impaired leading to reduced snout and body length, and extremely short limbs. The proliferating zone of epiphyseal cartilage is disorganized with densely packed round chondrocytes and little extracellular matrix, in contrast to the regular columnar organization of chondrocytes in wild type cartilage. Chondroitin sulfate content of cartilage is significantly reduced, associated with reduced proteoglycan aggregates in the extracellular matrix. {ECO:0000269|PubMed:17952091}.