5β-Reductase activity was introduced by a single point mutation in which the conserved catalytic His (H117) was mutated to Glu117.
The conserved tyrosine-rich domain (YRD), present within the C-terminal region, was essential for the interaction between full-length NKX2-5 and the C-terminus, being blocked by the NKX2-5YRDY−A mutatinn in which all 9 tyrosines of the YRD are mutated to alanine.
This mutation, in which the usual amino-acid residue proline is replaced by leucine, is identical to a change that causes diabetes and health problems in humans5,6.
We show that a ced-7 mutation in which the CED-3 recognition site, Asp-1691, has been replaced with Ala is defective in axon regeneration.
The lack of caspase 3 activity was found to be the result of a fortuitous mutation in which Trp206 in the S4 subsite was replaced by arginine (W206R).
This mutant has a deletion/replacement mutation in which eight nucleotides are replaced by three nucleotides, leading to an effective 5 bp deletion and the introduction of a frameshift mutation (Extended Data Fig. 5).
But he told me that he is now working on something titled "The Destruction of Beauty Salon": a new version, or text, or mutation, in which Bellatin the narrator will tell an imaginary Creative Commons editor all about "the things that happened" with the book since 1994, including details of his war against Tusquets.
Here we report the generation of a mouse model for a connexin 26 (Cx26) mutation, in which cre-Sox10 drives excision of the Cx26 gene from non-sensory cells flanking the auditory epithelium.
To determine the extent to which gene expression is related to the formation of visible rhombomere boundaries, we have examined, by in situ hybridization, the expression of five rhombomere-specific genes in mouse embryos homozygous for the kreisler (kr) mutation, in which rhombomeres 4-7 areplacedced by a smooth morphologically unsegmented neural tube.
This is the first characterization of a mutation in which insertion in the carboxy terminal region of factor IX causes factor IX deficiency.
The designed vector pOmni (Fig. 1) was constructed on the basis of pcDNA 3.1 through four times of PCR-mediated mutation, in which one is deletion and three are insertions.
