Issues

Summary: This Editorial discusses a new initiative in pre-clinical mouse genetics research to increase the predictive power, relevance and sharing of complex genetic models by the UK MRC National Mouse Genetics Network.

Summary: Diverse and complementary mouse models of cancer enable robust disease positioning and experimental design. Here, we argue that variation in mouse models is central to improving translatability of pre-clinical research.

Summary: Model organisms have the ability to illuminate human biology and disease. Here, we discuss strategies proposed during recent virtual discussions organized by the NIH for improving the rigor, validation, reproducibility and translatability of model organism research.

Summary: Homotrimeric collagen (I) interacts with a brittle bone allele to impair bone structure without directly causing bone fragility, but produces pre-weaning loss and age-related deterioration in males.

Summary:Tbx1 mutations model DiGeorge syndrome in mice. A phenotypic rescue approach revealed that Tbx1 gene dosage reduction is associated with mislocalization of cell lineages contributing to the pharyngeal apparatus.

Summary: Behavioral abnormalities are associated with a deficit in dopaminergic signaling in the prefrontal cortex of Col6a1^–/– mice, and patients bearing COL6 mutations show defects in attentional control abilities.

Summary: A mouse model of Bardet-Biedl syndrome type 10 recapitulates the human disease phenotype and can be used to develop therapies for future clinical trials.

Summary: A meta-analysis and interactive database of TDP-43 target genes and splicing events identified in publicly available RNA-sequencing datasets from six TDP-43 knockdown models and TDP-43-immunonegative neurons in amyotrophic lateral sclerosis/frontotemporal dementia.

Summary:Kctd7 knockout mice develop seizures and locomotor defects, mirroring KCTD7-driven progressive myoclonic epilepsy in humans, and show neuronal cell death in the cerebellum and region-specific defects in brain microvasculature.

Editor's choice: We fate map melanoma cells from the primary tumour into a persister cell state and show that persister cells directly contribute to recurrent disease.

Editor's choice: This article describes the structural, cellular and molecular characterization of five mouse models that allow the grafting of human cancers.