ANAT2341 Lab 4 2013

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Mouse Models of Human Genetic Disease

This page is under development July 2013


Objectives of this laboratory

  1. Short answer/multiple choice test of last week's lecture material ('early vascular development' and 'development of the placenta')
  2. Tutorial on the technologies available to researchers to study gene function in mice.
  3. Provide time for groupwork and allow groups to ask questions of lecturing staff.


Tutorial

In the tutorial I will explain why and how researchers are using the mouse as a model for human genetic disease. I will give an overview about the various methods to study gene and protein expression in the developing mouse embryo, and how researchers manipulate gene function in mice in vivo. This tutorial will greatly facilitate your understanding of the research articles that you will read for your group projects. A PDF file with the powerpoint show can be found here: File:ANAT2341 - Lab 4 - Mouse Models of Human Disease.pdf


Why do researchers use the mouse as a model system for human disease?

  1. Small, cheap to house and feed, breed quickly.
  2. Embryology resembles that of humans.
  3. Genetically similar to humans.
  4. Fully sequenced genome.
  5. Amenable to genetic manipulation.

Gene and protein expression technologies

Our genetic material, the DNA, is localized in the nucleus, and encodes proteins, which carry out a diverse range of functions in- and outside the cells. DNA is first transcribed into messenger RNA, which is then translated into proteins in the cytoplasm. The first step to get insight into gene or protein function, is by knowing where it is localized. Numerous technologies have been developed that investigate the location of RNA and protein in tissues and cells.

RNA detection:

  1. Reverse transcriptase polymerase chain reaction (RT PCR)
  2. Northern Blotting
  3. Quantitative real time RT PCR