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Recently, the Tommy mouse mutation was identified as a new PMCA2 pump mutant with progressive deafness from an ENU mutagenesis screen [ 76].
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Many new mouse mutations are being developed through large-scale mutagenesis screens that use chemicals such as N-ethyl-N-nitrosourea to induce point mutations at a high rate.
However, none of the mouse mutations were pathogenic suggesting that mtDNA changes do not contribute to the carcinogenic progression of these chemically induced and spontaneous mouse brain tumors.
In NOD-SCID mice, this mutation was backcrossed onto the NOD/ShiLt background.
Because of the limited fertility of homozygous PLCγ2−/− mice, the mutation was maintained in heterozygous form as described [ 26].
When Cooper's team attempted this in mouse embryos, the mutation was not always copied correctly, and the process worked only in female embryos.
This molecule interacted genetically with Appl and is structurally similar to mouse NTKL/SCYL1, whose mutation was reported to cause neurodegeneration.
The mouse Clock Δ19 mutation was originally induced on the C57BL/6J (hereafter B6) isogenic background by ENU mutagenesis (Vitaterna et al., 1994).
Therefore, the endogenous mouse SOD1 D83G mutation is informative for determining why some U and LMN die in ALS but removes any possible confounding effects of overexpression observed in SOD1 transgenic mice.
Its association with diverse cellular processes suggests vital functional roles and the mouse htt null mutation is lethal (Duyao et al., 1995; MacDonald et al., 1996).
Genotyping of a cohort of Clth/+ and Clth/Clth mice showed that this mutation was 100% concordant with Cloth-ears phenotype (n = 122).
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