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Open AccessImproving laboratory animal genetic reporting: LAG-R guidelines
The biomedical research community addresses reproducibility challenges in animal studies through standardized nomenclature, improved experimental design, transparent reporting, data sharing, and centralized re...
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Open AccessHow much do we know about the function of mammalian genes?
The last two decades have seen impressive advances in functional genomics, but we are still a long way from understanding the complexity of gene function. Here, we pose questions on how much is currently known ab...
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Protocol
Genoty** Genome-Edited Founders and Subsequent Generation
Targeted nucleases allow the production of many types of genetic mutations directly in the early embryo. However, the outcome of their activity is a repair event of unpredictable nature, and the founder animal...
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Open AccessMendelian gene identification through mouse embryo viability screening
The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associa...
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Open AccessPublisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy
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Introduction to Mammalian Genome Special Issue: Mammalian Genetic Resources
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Open AccessExtensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy
Clinical presentation of congenital heart disease is heterogeneous, making identification of the disease-causing genes and their genetic pathways and mechanisms of action challenging. By using in vivo electroc...
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A resource of targeted mutant mouse lines for 5,061 genes
The International Mouse Phenoty** Consortium reports the generation of new mouse mutant strains for more than 5,000 genes, including 2,850 novel null, 2,987 novel conditional-ready and 4,433 novel reporter a...
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Open AccessA novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits
The small EDRK-rich factor 2 (SERF2) is a highly conserved protein that modifies amyloid fibre assembly in vitro and promotes protein misfolding. However, the role of SERF2 in regulating age-related proteotoxi...
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Open AccessDiverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations
Mutations in the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20) in both humans and dogs. Studies implicating the phenotypic consequences of SNX14 mutations to be consequences of subcellu...
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Open AccessHuman and mouse essentiality screens as a resource for disease gene discovery
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 ...
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Protocol
Targeted Mutations in the Mouse via Embryonic Stem Cells
Genetic modification of mouse embryonic stem (ES) cells is a powerful technology that enabled the generation of a plethora of mutant mouse lines to study gene function and mammalian biology. Here we describe E...
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Open AccessMale mice lacking ADAMTS-16 are fertile but exhibit testes of reduced weight
Adamts16 encodes a disintegrin-like and metalloproteinase with thrombospondin motifs, 16, a member of a family of multi-domain, zinc-binding proteinases. ADAMTS-16 is implicated in a number of pathological condit...
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When all is not lost: considering genetic compensation in laboratory animals
A recent article by El-Brolosy and colleagues introduced an unexpected twist for our understanding of knock-out mutations by revealing compensatory mechanisms that recruit the expression of other genes to miti...
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Open AccessCharacterisation and use of a functional Gadd45g bacterial artificial chromosome
Bacterial artificial chromosomes (BACs) offer a means of manipulating gene expression and tagging gene products in the mammalian genome without the need to alter endogenous gene structure and risk deleterious ...
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Open AccessApplication of long single-stranded DNA donors in genome editing: generation and validation of mouse mutants
Recent advances in clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) genome editing have led to the use of long single-stranded DNA (lssDNA) molecules for ge...
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Response to “Unexpected mutations after CRISPR–Cas9 editing in vivo”
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Correction: Corrigendum: High-throughput discovery of novel developmental phenotypes
Nature 537, 508–514 (2016); doi:10.1038/nature19356 In this Article, the author Wolfgang Wurst was erroneously omitted from the author list. They are associated with the affiliations: HelmholtzZentrum Munich, ...
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Introduction to Mammalian Genome Special Issue: Genome Editing
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Open AccessPhenoty** first-generation genome editing mutants: a new standard?
The unprecedented efficiency of the CRISPR/Cas9 system in genome engineering has opened the prospect of employing mutant founders for phenoty** cohorts, thus accelerating research projects by circumventing t...
