Skip Header


Disruption phenotype

This subsection of the ‘Pathology and Biotech’ section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.

This subsection contains information on null mutants caused by random or targeted deletions using classic techniques, such as homologous recombination and insertions of a transposable elements, as well as newer methods such as nuclease-directed genome editing. In specific cases, such as embryonic lethality, conditional knockouts, such as those produced by the Cre-Lox recombination system, are also reported. Morpholino knockdown (e.g. in zebrafish or frog) or RNAi (e.g. in C. elegans) performed at the level of the entire organism are reported in this subsection. By contrast, RNA interference experiments performed at the single-cell level are not described.

Example: Q8K1M6

To avoid description of phenotypes due to partial or dominant negative mutants, missense mutations are not described in this subsection, but in the ‘Mutagenesis’ subsection.