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To investigate if allelic heterogeneity contributes to phenotypic variability, we analyzed an allelic series of Col4a1 and Col4a2 mutant mice comprising a splice site mutation and seven glycine missense mutations within the triple-helix-forming domains (six in COL4A1, one in COL4A2), and one missense mutation in the globular NC1 domain of COL4A1 (Fig. 1A).
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We report genome-wide DNA methylation profiles of wild type (wt) and mutant mouse cells, comprising 3 biological replicates of Thymine DNA glycosylase (Tdg) knockout (KO) embryonic stem cells (ESCs), in vitro differentiated neural precursor cells (NPCs) and embryonic fibroblasts (MEFs).
In mutant mice at P10, while shortened adherens junctions and underlying F-actin belts comprised the primary alterations in Deiters' cells (Fig. 2D,E), outer pillar cells showed additional disturbances.
You've got some normal mice and some mutant mice.
B.Cha. provided Gnat1rd17Gnat2cpfl3 double mutant mice.
Generation and characterization of dickkopf3 mutant mice.
The heterozygous mutant mice were subsequently intercrossed to generate homozygous mutant mice (Fig. 1C).
Mutant mice expressed both wild-type and mutant decorin.
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice.
Distinct phenotypes of mutant mice lacking agrin, MuSK, or rapsyn.
Importantly, histopathological alterations observed in TDP-43 mutant mice were similar to some characteristic changes observed in mutant SOD1 mice.
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