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Scarb1
Researchers created a specialized mouse model using CRISPR/Cas9 gene-editing technology to study a specific mutation in the Scarb1 gene, which plays a key role in cholesterol and lipid metabolism. This model includes a precise single-letter change in the DNA (c.956G>T; p.G319V), mimicking a mutation found in humans that affects how HDL functions. By replicating this mutation in mice, scientists can closely examine its effects on cholesterol levels and cardiovascular health, offering valuable insights into related human diseases.
Referenced Paper: Inherited Variants in SCARB1 Cause Severe Early-Onset Coronary Artery Disease
Stxbp1
Researchers developed a knockout-first (KO-first) mouse model to investigate the critical role of the Stxbp1 gene in neurological function. By disrupting the gene's activity using a targeted cassette, the model effectively truncates Stxbp1 mRNA, allowing scientists to study how the loss of this gene affects brain development and function. This innovative tool provides new insights into the molecular mechanisms underlying neurological disorders associated with Stxbp1 deficiency.
Referenced Paper: Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy
Plp1
Researchers created a mouse model to study the effects of a specific mutation in the Hprt gene, which plays a vital role in purine metabolism. This model carries a precise A-to-G base change at the 3' splice acceptor site of intron 4, disrupting normal splicing of the gene's mRNA. By replicating this mutation, scientists can investigate its impact on metabolic processes and gain valuable insights into disorders like Lesch-Nyhan syndrome, which are linked to Hprt dysfunction.
Referenced Paper: A single nucleotide difference in the gene for myelin proteolipid protein defines the jimpy mutation in mouse
Itga8
Researchers developed a specialized mouse model to explore the function of the Itga8 gene in physiological processes. By inserting a CreERT2-P2A-mCherry coding sequence along with a polyadenylation signal into exon 1 of Itga8, this model allows for precise control and visualization of gene expression. After removing the selection marker through breeding with FLPer mice, the resulting model enables researchers to study the gene's role in cell signaling and development in a particular and adaptable way. This tool is a significant advancement for understanding Itga8-related biological pathways.
Referenced Paper: A vascular smooth muscle-specific integrin-α8 Cre mouse for lymphatic contraction studies that allows male-female comparisons and avoids visceral myopathy
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