Hells mutation

Species: House mouse (Taxid: 10090)
Factor: Hells
Manipulation: Loss-of-Function, Knockout, Mutation, Deletion

A hypomorphic deletion of helicase domains 3, 4 and part of 2, leads to expression of a C-terminal truncated Hells protein causing an extremely short lifespan. with 60% of homozyogous mutants dying after birth and remaining 40% surviving up to seven weeks (around 25 days) [15105378].

Hells disruption results in genomic hypomethylation, de-repression of silenced genes, and premature aging, characterized by decreased proliferation, increased replicative senescence, and altered expression of Bmi-1 and p16INK4a. Hells mutant exhibit significant hypoglycemia, low birth weight and growth retardation, and signs of premature aging such as greying hair and balding, reduced fat deposition, unstable gait, cachexia, and kyphosis [15105378].

  • 15105378: Growth retardation and premature aging phenotypes in mice with disruption of the SNF2-like gene, PASG.

  • Aging Relevance Analysis/Source:
  • GenAge
  • GenDR

  • Edit / Update (Admin) | Delete

    Comment on This Data Unit