Penetrance versus Expressivity

Egg colour of the endangered Hawai'ian Oo'Aa bird is controlled by a single

locus, BLU, where the B allele is dominant to the b allele. As part of the recovery
strategy, a pure-breeding blue-egg bird (BB) from one island is crossed with a pure-
breeding white-egg bird (bb) from another island. Because all the offspring
are Bb heterozygotes, they are all expected to show a uniform, blue phenotype like that
of the BB parent. However, if penetrance and / or expressivity vary, three patterns of
variation that differ from expectation are possible.

If penetrance varies [left], the Bb genotype sometimes does not penetrate through to
the phenotype: some Bb eggs are blue just like those of their BB parents, others are
white like those of their bb parents, despite presence of the B allele. "Lack of
penetrance" is sometimes used to explain individuals whose phenotypes do not reflect
their inferred genotypes, e.g., a dominant trait that appears to "skip" a generation in a
pedigree

If expressivity varies [middle], the Bb genotype will not be expressed uniformly in

the phenotype: all eggs are blue, but the exact shade of blue varies among individuals
with the same genotype. Variable expressivity is frequently attributable to environmental
factors or variation at gene loci elsewhere in the genome.

If expressivity and penetrance both vary [right], there may be a continuous

gradient of phenotypes between white and blue eggs. Note that lack of penetrance can
be considered as an extreme from of expressivity, in which the range of expression
includes non-expression.