Mine Disruption Phenotype

Gene Info

  • Species: Mouse (Mus musculus)
  • GeneID: 71175
  • Symbol: Nipbl
  • Description: NIPBL cohesin loading factor
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Gene ID Entry Entry Name Protein Name Type Information
71175 Q6KCD5 NIPBL_MOUSE Nipped-B-like protein (Delangin homolog) (SCC2 homolog) DISRUPTION PHENOTYPE Deletion of NIPBL in mouse liver leads to strong depletion of chromatin-bound cohesin and marked reorganization of chromosomal folding. Cells retain transcriptionally active (type A) and transcriptionally inactive (type B) compartments, but lose topologically associating domains (TADs) patterns and TAD-associated peaks of contact enrichment across the whole genome. The compartmentalization of chromatin in cells lacking NIPBL is enhanced around 1.8-fold compared with controls. {ECO:0000269|PubMed:29094699}.