Mine Disruption Phenotype

Gene Info

  • Species: Mouse (Mus musculus)
  • GeneID: 16439
  • Symbol: Itpr2
  • Description: inositol 1,4,5-triphosphate receptor 2
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Gene ID Entry Entry Name Protein Name Type Information
16439 Q9Z329 ITPR2_MOUSE Inositol 1,4,5-trisphosphate receptor type 2 (IP3 receptor isoform 2) (IP3R 2) (InsP3R2) (Inositol 1,4,5-trisphosphate type V receptor) (Type 2 inositol 1,4,5-trisphosphate receptor) (Type 2 InsP3 receptor) DISRUPTION PHENOTYPE There is a 3-fold reduction in the number of pilocarpine-responsive sweat glands in knockout animals. The sweat glands of these animals show a significant reduction in Ca(2+) response following acetylcholine stimulation compared with those of wild-type animals. The Itpr2-null animals retained some residual sweat production, in contrast to the human phenotype of anhidrosis. This phenotypic discrepancy may be due to differences between humans and mice in the expression of the 3 ITPR isoforms, as well as to the different stimuli used to provoke sweat production in Itpr2-null animals. {ECO:0000269|PubMed:25329695}.