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In the Δ27 mouse mutant of KIT, which has a deletion of codons 547 555 in the juxtamembrane domain (exon 11) known to cause constitutive activation and ligand-independent cell proliferation [19], masitinib dose-dependently inhibited Δ27 KIT-dependent proliferation of Ba/F3 cells with an IC50 of 5.0±0.3 nM (Table 1 and Figure 3C).
This was achieved by analysing a cell-specific mouse mutant of PTEN.
Implications and future directions This study shows the first mouse mutant of NM that exhibits fast-myofiber-specific atrophy.
Indeed, even Scn8a has recently been reported to modulate the severity of seizures in a mouse mutant of Scn2a (Martin et al. 2007).
A knock-in mouse mutant of an NHS patient protein truncation mutation, or knock-out model, may lead to a dental phenotype, developmental delay and perhaps other symptoms associated with NHS.
Hema6 is the only known mouse mutant of Ank1 allelic series that expresses full-length canonical ankyrin-1 at a reduced level, a fact that makes it particularly useful to study the functional impact of ankyrin-1 quantitative deficiency.
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Mouse mutants of Lrp4 and Wise exhibit identical tooth phenotypes that include supernumerary incisors and molars, and fused molars.
To gain insight into the roles of Hh signaling in ventral body wall formation and its malformation, we analyzed phenotypes of mouse mutants of Sonic hedgehog (Shh), GLI-Kruppel famemberember 3 (Gli3) and Aristaless-like homeobox 4 (Alx4).
Our unexpected result demonstrating the gain of function effects in the D36 mutant compared to the KO underscores the complexity of analyzing mouse mutants of the AKAP scaffolding proteins since they assemble with multiple signaling partners that may interact with each other as well as potential substrates.
Mouse mutants of Rab28 would facilitate functional analysis of Rab28 in intracellular transport and provide insights into disease mechanism.
Additionally, wnt3a is the ligand of the signaling, and mouse mutants of Wnt3a lack caudal somites (Takada et al. 1994).
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