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The result handout (Towle 1999) was modified to clarify the relationship between DNA alteration by mutation and phenotype change and to show that evolution means changes beyond generations (Fig. 4).
Here we describe, in detail, the complementation experiments for mutant 7K, as one example of the direct link between mutation and phenotype.
The essential ingredient in this model is the differentiation between genotype (molecular sequences which are affected by mutation) and phenotype (molecular structure, affected by selection).
Preliminary analyses of our M3 cad mutants (data not shown) indicate that the mutation is heritable, segregates and can be correlated with brown/orange coloured xylem further establishing the link between mutation and phenotype in the flax population.
Collectively, the Xcat mouse mutation and phenotype, and our data indicating aberrant transcription of the NHS gene causes CXN, suggest that the Xcat mouse is an excellent model for CXN, but may not be a model for NHS.
As an alternative to embarking on such a programme, we instead assess the correlation between mutation and phenotype by comparing homozygous recessive mutants to heterozygotes and homozygous wild-type sibling plants in a segregating population for which the background mutations are the same.
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Mice were genotyped for the Nr2e3rd7/rd7 mutation and phenotyped by indirect ophthalmoscopy for retinal spotting as previously described [13], [45].
We previously reported subjects with only a single disease-causing mutation and phenotypes exactly matching that of FRDA, who had disease-level frataxin levels in buccal swabs.
Human genetic mutation and phenotypes have been well curated in the Online Mendelian Inheritance in Man (OMIM) database [ 9] and have been used to evaluate phenotype similarities between different gene perturbations [ 10].
In fact, the variation in sequence (including silent mutations) and phenotype indicated that all sequenced isolates were from different clones.
These cells show many differences about their genotype, such as Kras or p16 mutations, and phenotype, as adhesion, migration, invasion and angiogenesis capacities [ 26].
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Justyna Jupowicz-Kozak
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