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A change to a single gene in the bacterium Yersinia pestis has enabled one of the world’s most notorious pathogens to survive ...
Researchers insert a 40,000-year-old Neanderthal variant of the GLI3 gene into mice, altering their bone structure without malformations.
A team of scientists at Duke University made a mouse just a bit more human. They didn’t give it speech or opposable thumbs.
This study presents and characterizes a Dnmt3a mutant mouse model which carries a heterozygous hotspot R878H mutation frequently found in human cancers, providing insights into Dnmt3a-mutant ...
Instead, the researchers used a leukemia mouse model with a defective genetic proofreading system called Polg, which gradually accrues mtDNA mutations. By disrupting Polg’s proofreading function in ...
The researchers found that heterozygous mice (those with a moderate number of mutated mitochondria) seemed to amplify leukemia growth. Homozygous mice with a high number of mutations had the ...
While classic genetics teaches that two hits are required to inactivate TSGs, sequencing studies show that heterozygous mutations are also quite frequent. Some of these are loss of function alleles, ...
this mutation leads to reduced GCase activity, which can be associated with α-synuclein aggregation. Heterozygous (het) and homozygous (hom) KI mice are viable and fertile, with normal litter sizes, ...
"With mouse models, you can start thinking about ... "so if they see a mutation like these, even a heterozygous mutation, they will investigate further." Other senior authors of the paper are ...
By studying mice with a frameshift mutation in the KMT2C gene ... was identified as a gene whose heterozygous loss-of-function variants are causally associated with autism spectrum disorder (ASD) and ...