Mine Disruption Phenotype

Gene Info

  • Species:Mouse (Mus musculus)
  • GeneID:107823
  • Symbol:Nsd2
  • Description:nuclear receptor binding SET domain protein 2
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Gene ID Entry Entry Name Protein Name Type Information
107823 Q8BVE8 NSD2_MOUSE Histone-lysine N-methyltransferase NSD2 (EC 2.1.1.357) (Multiple myeloma SET domain-containing protein) (MMSET) (Nuclear SET domain-containing protein 2) (Wolf-Hirschhorn syndrome candidate 1 protein homolog) DISRUPTION PHENOTYPE Offspring number is low at birth (PubMed:19483677). After birth, pups have growth retardation and die within 10 days (PubMed:19483677). At 15.5 dpc, levels of trimethylated 'Lys-36' on histone H3 are reduced (PubMed:19483677). At 18.5 dpc, embryos are smaller with midline fusion defects due to a lack of ossification centers and some have cleft palates (PubMed:19483677). They also have heart defects including atrial and ventricular septal defects (PubMed:19483677). Conditional knockout in CD4(+) T-cells, reduces dimethylation of histone H3 at 'Lys-36' at the Bcl6 gene locus in response to T-cell activation which results in impaired Bcl6 expresseion (PubMed:31636135). Following immunization with ovalbumin antigen or sheep red blood cells, or infection with LCMV virus, follicular helper T (Tfh) cell differentiation and germinal center B cell response are reduced (PubMed:31636135). Also, following infection with LCMV virus, clearance of the virus is delayed (PubMed:31636135). No defect in T-cell development (PubMed:31636135). {ECO:0000269|PubMed:19483677, ECO:0000269|PubMed:31636135}.