In conclusion, we have identified a novel SCN4A mutation in a human patient and created a mouse model carrying the equivalent point mutation.
We have identified and characterized the first mouse model carrying the equivalent of a human ALS pathogenic mutation in the endogenous mouse Sod1 gene, and this mutation is identical to a human fALS mutation (24).
We have also produced its mouse model, draggen, carrying the equivalent point mutation in the mouse Scn4a gene.
By generating and characterizing a mouse model ('draggen') carrying the equivalent point mutation (I582V), they uncover novel pathological and metabolic features of SCN4A channelopathies.
Using N-ethyl N-nitrosourea mutagenesis, we generated and characterized a mouse model (named draggen), carrying the equivalent point mutation (c.1744A>G; p.I582V) to that found in the patient with periodic paralysis and myotonia.
Characterization of precise genetic mouse models with the equivalent mutation introduced by knock-in techniques into Hdh, the mouse HD ortholog, indicates that molecular differences are evident even at the embryonic stem (ES) cell stage [ 9, 10].
Here we use an inbred C57BL/6J mouse model of early gestational ethanol exposure equivalent, developmentally, to the first 3 4 weeks of pregnancy in humans to examine the long-term effects on gene expression and epigenetic state in the hippocampus.
In order to generate an equivalent testicular GCT mouse model, in this case for CDDP-refractory tumors, we orthotopically implanted a human retroperitoneal metastatic mixed GCT (with teratoma and yolk sac components) that was refractory to first-line CDDP chemotherapy.
regimen for 5 days at 200 mg/kg dose led to a 98.4% suppression of parasites in a mouse model of visceral leishmaniasis which is equivalent efficacy to that seen with miltefosine.
Toward addressing this hypothesis, we generated a knockin mouse model in which Thr649 on mouse AS160 (equivalent to Thr642 on human AS160) is mutated to a nonphosphorylatable alanine to prevent 14-3-3 14-3-3 14-3-3vo.
