Mine Disruption Phenotype

Gene Info

  • Species:Mouse (Mus musculus)
  • GeneID:381038
  • Symbol:Parl
  • Description:presenilin associated, rhomboid-like
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Gene ID Entry Entry Name Protein Name Type Information
381038 Q5XJY4 PARL_MOUSE Presenilin-associated rhomboid-like protein, mitochondrial (EC 3.4.21.105) (Mitochondrial intramembrane-cleaving protease PARL) [Cleaved into: P-beta (Pbeta)] DISRUPTION PHENOTYPE Mice develop normally until 4 weeks of age. They show subsequent progressive growth retardation, atrophy of muscle, spleen, and thymus as well as severe apoptosis of T and B lymphocytes leading to premature death between 8-12 weeks of age. Mouse embryonic fibroblasts lacking Parl show high susceptibility to intrinsic apoptotic signals. This defect can be complemented by Parl or a soluble form of Opa1. {ECO:0000269|PubMed:16839884}.