Inducing Somatic Pkd1 Mutations in Vivo in a Mouse Model of Autosomal-Dominant Polycystic Kidney Disease

Abstract

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the worlds most common life threatening genetic diseases. Over 95 percent of diagnosed cases of ADPKD are caused by mutations in PKD1 or PKD2 genes. The overall goal of this project is to identify, at the single cell level, the mechanisms that drive the progression of a homozygous Pkd2 null renal cell towards a pathogenic clonal cyst in a mouse model of ADPKD. We have established several genetic models to induce mutations: two during embryogenesis (with Six2-cre and CVM-cre) and one in the adult (Villin-cre). One of the embryonic models has generated clones of wild type and mutant cells that persist in the adult. The adult model has failed to induce sufficient recombination. In this report we summarize the results obtained with the embryonic model.

Open PDF

Document Details

Document Type
Technical Report
Publication Date
Mar 01, 2018
Accession Number
AD1053853

Entities

People

  • Cristina Cebrian-ligero

Organizations

  • University of Michigan

Tags

DTIC Thesaurus Topics

  • Abstracts
  • Alkanes
  • Biomedical Research
  • Cell Polarity
  • Cells
  • Chromosomes
  • Department Of Defense
  • Diseases And Disorders
  • Epithelial Cells
  • Fluorescence
  • Frequency
  • Genetic Diseases
  • Genetic Phenomena
  • Information Operations
  • Kidney Diseases
  • Kidneys
  • Lymphocytes
  • Maryland
  • Medical Personnel
  • Michigan
  • Mutations
  • Students
  • Technology Transfer
  • Training
  • Very Low Frequency

Fields of Study

  • Biology

Readers

  • Molecular and Cellular Biology
  • Molecular and genetic basis of cancer.

Technology Areas

  • Biotechnology