Gene knockout

Molecules (Continuity and change) · Mutation and gene editing · note 4 of 6

Spec D1.3.8
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Gene knockoutSpec D1.3.8

In short

Gene knockout is a technique for investigating the function of a gene by changing it to make it inoperative. Researchers compare the knockout organism with a normal one; any difference in phenotype suggests what the gene does. Libraries of knockout organisms, each lacking a different working gene, exist for some model species such as mice and yeast.

Gene knockout is a technique for investigating the function of a gene by changing it to make it inoperative. The gene's base sequence is altered, or part of it removed, so that no functional product is made.

  1. Choose a gene whose function is unknown.
  2. Make the gene inoperative in an organism (a knockout organism).
  3. Compare the phenotype of the knockout organism with that of a normal (wild-type) organism.
  4. Any difference, such as in development, behaviour or metabolism, suggests what the gene normally does.

Details of knockout techniques are not required. Students should know that libraries of knockout organisms are available for some species used as models in research. For example, collections of yeast strains exist with nearly every gene knocked out one at a time, and international projects are building a knockout mouse for each mouse gene. Researchers can obtain an organism with a particular gene knocked out instead of making it themselves.

Practical skill:

A knockout experiment needs a control: wild-type organisms of the same strain, raised in the same conditions, so that any difference can be attributed to the missing gene.

Written and checked against the IB Biology HL specification · Updated October 2026

Frequently asked questions

What is the difference between a substitution and a frameshift mutation?

A substitution replaces one base with another, so only one codon changes and at most one amino acid is altered; it may have no effect because the genetic code is degenerate. A frameshift is caused by inserting or deleting bases that are not a multiple of three, changing every codon afterwards, so the polypeptide usually stops functioning.

What causes gene mutations?

Gene mutations are caused by mutagens and by errors in DNA replication or repair. Chemical mutagens include benzo[a]pyrene and nitrosamines in tobacco smoke. Mutagenic radiation includes ultraviolet light, X-rays and gamma rays. Mutations occur at random anywhere in the genome; no natural mechanism deliberately changes a particular base to change a trait.

Why are mutations important for evolution?

Mutations are important for evolution because gene mutation is the original source of all genetic variation: it is the only process that creates new alleles. Most mutations are harmful or neutral for an individual, but over long periods some new alleles increase survival and reproduction, so natural selection can act on them and species can evolve.

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