Sara E. Wells

Placental defects revealed by modelling PWS in mice

The paper shows reduced PWS gene expression in mouse placenta leads to a 25% loss of fetal endothelial cells critical for nutrient transfer.

Combining Cas9 and dCas9 facilitates genome editing in genes associated with viability or welfare issues, or within paralogous gene clusters

This study shows that combining dCas9 and Cas9 improves viability and reduces off-target effects when editing genes linked to viability or paralogous clusters.

The Preclinical Animal Network (PCAN): Integrative high-throughput phenotyping of standardized mouse models for Prader-Willi syndrome

The paper introduces PCAN, a resource integrating high-throughput phenotyping of mouse models for Prader-Willi syndrome to evaluate phenotypes and therapeutic strategies.

International Mouse Phenotyping Consortium: Investigating gene function and providing insights into human disease.

The paper describes the International Mouse Phenotyping Consortium's data portal, its expansion to over 100 million data points, and improvements to its web interface and data access tools.

Establishing Comprehensive Transthoracic Echocardiography Reference Ranges for Mouse Models: Insights into the Impact of Anesthesia, Sex, and Age

This study establishes TTE reference ranges for mice, showing anesthesia significantly affects cardiac function, with minimal sex differences and modest age-related changes.

DYRK1A kinase triplication is the major cause of Otitis Media in Down Syndrome

The paper identifies DYRK1A triplication as the major cause of otitis media in Down syndrome by using mouse models and shows that normalizing its dosage restores the wild-type phenotype.

Impact of Essential Genes on the Success of Genome Editing Experiments Generating 3,313 New Genetically Engineered Mouse Lines

The paper analyzes 3,313 genetically engineered mouse lines to identify gene essentiality as the main factor affecting Cas9-based genome editing success.

Long-read transcriptomic identification of synaptic adaptation to amyloid pathology in the App(NL-G-F) knock-in mouse model of the earliest phase of Alzheimer's disease

The paper uses long-read RNA-seq to study splicing changes in an Alzheimer's mouse model, identifying novel transcript isoforms and alternative splicing events in response to amyloid-beta.

Application of long-read sequencing for robust identification of correct alleles in genome edited animals

This study uses long-read sequencing to accurately identify correct alleles in genome-edited animals despite mosaicism and complex edits.

Evolutionary constraint genes implicated in autism spectrum disorder across 2,054 nonhuman primate genomes

The paper identifies ASD-related genes with significant evolutionary constraint in nonhuman primate genomes, highlighting potential for primate models of autism.

Comprehensive longitudinal study of home-cage activity, including climbing, reveals new complex phenotypic profile in the N171-82Q HD mouse model with implications for refined preclinical studies.

This study uses home-cage video tracking to analyze voluntary behaviors in mice, revealing complex phenotypes and sexual dimorphism in a Huntington's disease model.

Mendelian gene identification through mouse embryo viability screening

The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.

Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing

This study investigates the role of Neuroplastin in mammalian hearing, showing that only the Np55 isoform is essential for cochlear hair cell function and that its absence interacts genetically with Cdh23 mutations to cause hearing loss.

Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down Syndrome-related phenotypes

The paper phenotypes Dp1Tyb mice, a Down syndrome model, and identifies multiple DS-like traits including cognitive and physical abnormalities.

A resource of targeted mutant mouse lines for 5,061 genes

The paper reports the generation of over 5,000 new mouse mutant strains for targeted genes, significantly expanding the available genetic resources for biomedical research.

LAMA: Automated image analysis for developmentalphenotyping of mouse embryos

LAMA automates 3D image analysis for mouse embryo phenotyping, integrating with an anatomical atlas to annotate dysmorphologies.

Ap2s1 mutation in mice causes familial hypocalciuric hypercalcemia type 3

This study creates a mouse model with an AP2S1 mutation causing FHH3, showing hypercalcemia and demonstrating cinacalcet's effect on calcium levels.

The occurrence of tarsal injuries in male mice of C57BL/6N substrains in multiple international mouse facilities

The paper reports on the occurrence of tarsal injuries in male C57BL/6N mice across multiple international facilities, describing clinical signs and findings from radiographic and histological analyses.

Human and mouse essentiality screens as a resource for disease gene discovery

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

Aberrant synaptic release underlies sleep/wake transition deficits in a mouse Vamp2 mutant

This study identifies a Vamp2 mutation in mice that causes sleep-wake transition deficits by reducing synaptic release probability.

Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities

This study shows that loss of Frrs1l in mice causes reduced synaptic AMPA receptor levels, leading to motor, cognitive, and electrographical abnormalities.