We also designed an experimental procedure using a mutated GFP gene containing a frameshift mutation that results in a loss of GFP expression.
William was born with a genetic mutation that results in achondroplasia, a kind of dwarfism.
Any mutation that results in a lack of function for a particular gene is called a "null" mutation.
A common RNASEL variant involves a mutation that results in decreased activity of the encoded ribonuclease L protein, thereby reducing immune defense against viruses.
The latter variation produced by the so-called leopard complex, a genetic mutation that results in a spotted coat often seen in modern breeds such as Appaloosas was realistically rendered in the 25,000-year-old cave paintings at Pech-Merle in the Midi-Pyrénées region of France.
One genetic difference that will be of interest to medical researchers is a mutation that results in dementia in humans, but seems to leave gorillas completely unaffected.
The rf1a allele differs from Rf1a due to a frameshift mutation that results in a truncated putative protein of 266 amino acids (Komori et al. [2004]; Wang et al. [2006]).
We have identified a novel Trp1197Stop mutation that results in dramatic elevation of serum ACE.
In addition, we identified that the ad792 allele carries a missense mutation that results in the R569H substitution.
Spinocerebellar ataxia type 7 is a polyglutamine disorder caused by an expanded CAG repeat mutation that results in neurodegeneration.
To test this possibility we crossed Gnat1−/− mice with animals carrying the Gnat2cpfl3 allele, a missense mutation that results in a progressive loss of cone function[20].
