1. Figure 1. Generation of the S250F Aadc mutant mice
Figure 1. Generation of the S250F Aadc mutant mice. (A) A sequence alignment of the AADC proteins from various mammals. The five amino acid domain (blue) that contains the serine residue (yellow) mutated to create the Aadc^S250F/S250F mutant mice is perfectly conserved from humans to rodents. (B) A schematic depicting the targeting strategy that was used to introduce the S250F mutation into the mouse genome. Indicated are the diagnostic 7 and 22 kb Bgl II fragments used to identify the mutant and wild-type Aadc alleles. The Nhe I and Bgl II sites in red text denote restriction sites engineered into the targeting construct. (C) Results of a Southern blot experiment on DNA from a correctly targeted ES cell clone and wild-type line. Whereas the probe revealed only one (22 kb) band in the wild-type cells, a second (7 kb) band corresponding to the mutant allele is also detected in the mutant ES cell clone. (D) Sequence chromatogram of DNA from the founder derived from the targeted ES cells reveals two peaks (asterisk) at position 890 of the mutant murine Aadc gene, confirming the presence of the C → T transition that gives rise to the S250F mutation. Also depicted is DNA sequence from a wild-type mouse which is homozygous C at the relevant nucleotide position.
From: A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency
Hum Mol Genet. 2017;26(22): doi: /hmg/ddx326
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