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The modifier genes reduce the number of possible morphs to the restricted number of mimetic forms.
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The availability of knockouts on either strain background reduces the likelihood that modifier genes will affect the phenotype after mice are made.
One of the possible explanations could be reduced penetrance, but also the presence of modifier genes or other unknown elements in the genome may play a role (25).
Modifier genes can enhance the primary defect (synergistic epistasis), leading to a more severe phenotype, or reduce it (antagonistic epistasis) and thus have a protective effect.
Davies, J., Alton, E. & Griesenbach, U. Cystic fibrosis modifier genes.
Nadeau, J.H. Modifier genes in mice and humans.
Cutting, G. R. Modifier genes in Mendelian disorders: the example of cystic fibrosis.
Romeo, G. & McKusick, V. A. Phenotypic diversity, allelic series and modifier genes.
Barøy, T. et al. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
The extensive phenotypic variability of MYH3-related diseases may be due to modifier genes or additional mutations.
An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed.
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