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Out of the ∼600 screened ES clones, we found three clones in which the Danish mutation was inserted in one of the BRI2 alleles.
In particular, the greater increase in agonist sensitivity, approximately 150-fold, occurred when the reporter mutation was inserted in the β subunit (top half of Table 2).
This interpretation is supported by the pattern of change in acetylcholine (ACh) sensitivity observed when a hydrophilic Leu to Thr mutation was inserted in position 9' of the second transmembrane domain, as the effect of mutating the more abundant subunit is greater.
In the above experiment, a single bp mutation was inserted.
The Lo mutation was inserted in the APPMV by Quikchange mutagenesis.
The mutation was inserted in the mouse genome by homologous recombination in mouse embryonic stem cells.
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In this genetic paradigm, the pathogenic human mutation is inserted in the mouse allele.
The individuals from the youngest generation who had the mutation were inserted into the case dataset.
Moreover, the effects on gating kinetics may be highly dependent on the subunit in which the mutation is inserted.
Our deductions so far are based on the assumption that each subunit mutation has an equivalent effect on GABA potency, regardless of the subunit in which the L9′S mutation is inserted.
Bochner, et al.[ 7] noted that when a mutation is inserted to inactivate a xylose catabolic gene (xylA) metabolism of maltose and maltotriose were also lost in addition to xylose.
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