A novel ARPKD mouse model with near-complete deletion of the Polycystic Kidney and Hepatic Disease 1 (Pkhd1) genomic locus presents with multiple phenotypes but not renal cysts

Kidney Int. 2023 Sep;104(3):611-616. doi: 10.1016/j.kint.2023.05.027. Epub 2023 Jul 5.
No abstract available

Keywords: ARPKD; Pkhd1 mouse model; complete Pkhd1 deletion; cysts; pediatric hereditary disease; single nucleus transcriptomic.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Animals
  • Cysts* / diagnostic imaging
  • Cysts* / genetics
  • Genomics
  • Mice
  • Mutation
  • Phenotype
  • Polycystic Kidney, Autosomal Recessive* / genetics
  • Receptors, Cell Surface / genetics

Substances

  • Pkhd1 protein, mouse
  • Receptors, Cell Surface

Supplementary concepts

  • Potter Type III Polycystic Kidney Disease

Associated data

  • figshare/10.6084/m9.figshare.22726550.v1
  • figshare/10.6084/m9.figshare.22734191.v1
  • figshare/10.6084/m9.figshare.22720789.v1
  • figshare/10.6084/m9.figshare.22726670.v1