TY - JOUR
T1 - The "No Phenotype" Challenge in Analyzing Mutant Mice
AU - Papaioannou, Virginia E.
AU - Behringer, Richard R.
N1 - Publisher Copyright:
© 2024 Cold Spring Harbor Laboratory Press.
PY - 2024/1
Y1 - 2024/1
N2 - If homozygous mutant mice survive to adulthood, are fertile, and have no visible phenotypes attributable to mutation of the relevant gene, there are a number of possible reasons why an effect of the mutation is not evident. Technical errors that might have occurred during gene targeting or genotyping must first be eliminated. Variable penetrance of the mutation should be considered as well as the possibility of age-related or late-onset phenotypes, such as tumor formation or other pathologies. The gene expression pattern and nature of the protein product of the gene could provide clues. A number of simple tests can be applied to uncover cryptic phenotypes that are not easily seen on casual inspection (e.g., tests of the senses and of balance and coordination). Genetic and environmental challenges can be applied to overtly normal mutant mice to reveal deviations from normal.
AB - If homozygous mutant mice survive to adulthood, are fertile, and have no visible phenotypes attributable to mutation of the relevant gene, there are a number of possible reasons why an effect of the mutation is not evident. Technical errors that might have occurred during gene targeting or genotyping must first be eliminated. Variable penetrance of the mutation should be considered as well as the possibility of age-related or late-onset phenotypes, such as tumor formation or other pathologies. The gene expression pattern and nature of the protein product of the gene could provide clues. A number of simple tests can be applied to uncover cryptic phenotypes that are not easily seen on casual inspection (e.g., tests of the senses and of balance and coordination). Genetic and environmental challenges can be applied to overtly normal mutant mice to reveal deviations from normal.
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U2 - 10.1101/pdb.over107977
DO - 10.1101/pdb.over107977
M3 - Article
C2 - 37932097
AN - SCOPUS:85181583301
SN - 1940-3402
VL - 2024
JO - Cold Spring Harbor protocols
JF - Cold Spring Harbor protocols
IS - 1
M1 - A23
ER -