Lauryl M. J. Nutter
University of Toronto
GenePhenotypeGeneticsGene knockoutBiology
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Publications 39
An impediment to the development of effective therapies for neurodegenerative disease is that available animal models do not reproduce important clinical features such as adult-onset and stereotypical patterns of progression. Using in vivo magnetic resonance imaging and behavioural testing to study male and female decrepit mice, we found a stereotypical neuroanatomical pattern of progression of the lesion along the limbic system network and an associated memory impairment. Using structural varia...
Last. Lauryl M. J. NutterH-Index: 13
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Cas-mediated genome editing has enabled researchers to perform mutagenesis experiments with relative ease. Effective genome editing requires tools for guide RNA selection, off-target prediction, and genotyping assay design. While independent tools exist for these functions, there is still a need for a comprehensive platform to design, view, evaluate, store, and catalogue guides and their associated primers. The Finding Optimizing and Reporting Cas Targets (FORCAST) application integrates existin...
#1Jacob Ellegood (Hospital for Sick Children)H-Index: 20
#2Stela P. Petkova (UC Davis: University of California, Davis)H-Index: 1
Last. Alex S. Nord (UC Davis: University of California, Davis)H-Index: 33
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One of the causal mechanisms underlying neurodevelopmental disorders (NDDs) is chromatin modification, and genes that regulate chromatin modify and control events regulating the formation of neural connections. AT-Rich Interactive Domain 1B (ARID1B), a chromatin modifier, has been shown to be reduced in autism spectrum disorder (ASD) and to affect rare and inherited genetic variation in a broad set of NDDs. For this work, a novel preclinical mouse model of Arid1b deficiency was created and molec...
#1Eleanor Herbert (RVC: Royal Veterinary College)H-Index: 1
#1E. Herbert (RVC: Royal Veterinary College)
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Dislocation in hindlimb tarsals are being observed at a low, but persistent frequency in adult male mice from C57BL/6N substrains. Clinical signs included a sudden onset of mild to severe unilateral or bilateral tarsal abduction, swelling, abnormal hindlimb morphology and lameness. Contraction of digits and gait abnormalities were noted in multiple cases. Radiographical and histological examination revealed caudal dislocation of the calcaneus and partial dislocation of the calcaneoquartal (calca...
#1Kevin C K LloydH-Index: 35
#2David J. AdamsH-Index: 53
Last. Mary E. DickinsonH-Index: 44
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In vivo research is critical to the functional dissection of multi-organ systems and whole organism physiology, and the laboratory mouse remains a quintessential animal model for studying mammalian, especially human, pathobiology. Enabled by technological innovations in genome sequencing, mutagenesis and genome editing, phenotype analyses, and bioinformatics, in vivo analysis of gene function and dysfunction in the mouse has delivered new understanding of the mechanisms of disease and accelerate...
1 CitationsSource
#1Pilar Cacheiro (QMUL: Queen Mary University of London)H-Index: 1
#2Violeta Muñoz-Fuentes (EMBL-EBI: European Bioinformatics Institute)H-Index: 14
Last. Hugh P. Morgan (Medical Research Council)H-Index: 17
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The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge. Here, we integrate measures of how essential a gene is to supporting life, as inferred from viability and phenotyping screens performed on knockout mice by the International Mouse Phenotyping Consortium and essentiality screens carried out on human cell lines. We propose a cross-species gene classification across the Full Spectrum of Intoler...
1 CitationsSource
#1Tao Zhang (Soochow University (Suzhou))
#2Pancheng Xie (Soochow University (Suzhou))H-Index: 4
Last. Ying Xu (Soochow University (Suzhou))H-Index: 32
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Circadian systems provide a fitness advantage to organisms by allowing them to adapt to daily changes of environmental cues, such as light/dark cycles. The molecular mechanism underlying the circadian clock has been well characterized. However, how internal circadian clocks are entrained with regular daily light/dark cycles remains unclear. By collecting and analyzing indirect calorimetry (IC) data from more than 2000 wild-type mice available from the International Mouse Phenotyping Consortium (...
#1Marina GertsensteinH-Index: 33
#2Joffrey MiannéH-Index: 6
Last. Lauryl M. J. NutterH-Index: 13
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#1Marie-Christine Birling (UDS: University of Strasbourg)H-Index: 13
#2Atsushi YoshikiH-Index: 33
Last. Stephen A. MurrayH-Index: 31
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The International Mouse Phenotyping Consortium reports the generation of new mouse mutant strains for over 5,000 genes from targeted embryonic stem cells on the C57BL/6N genetic background. This includes 2,850 null alleles for which no equivalent mutant mouse line exists, 2,987 novel conditional-ready alleles, and 4,433 novel reporter alleles. This nearly triples the number of genes with reporter alleles and almost doubles the number of conditional alleles available to the scientific community. ...
2 CitationsSource
#1Bret A. Moore (Veterinary Medical Teaching Hospital)H-Index: 4
#2Ann M. Flenniken (Lunenfeld-Tanenbaum Research Institute)H-Index: 18
Last. Ala Moshiri (UC Davis: University of California, Davis)H-Index: 8
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Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens. Here we present novel genes that may be causative for oculocutaneous disease in humans, discovered as part of a genome-wide screen of knockout-mice in a targeted single-gene deletion project. The International Mouse Phenotyping Consortium (IMPC) database (data release 10.0) was inte...