Issues
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Cover image
Cover Image
Cover: A von Kossa-stained L4 vertebra from a male wild-type mouse at P10 is used as a comparison to demonstrate the delayed skeletal development in Slc7a7Lbu/Lbu mice. L4 vertebrae from Slc7a7Lbu/Lbu mice at P14-P18 are more comparable to those from P5-P10 wild-type mice than to those from age-matched controls. See article by Stroup et al. (dmm050118). Cover image is licensed under a Creative Commons Attribution 4.0 International license.
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EDITORIAL
Adult zebrafish as advanced models of human disease
Summary: Zebrafish embryos and larvae have greatly contributed to our understanding of human development and disease, but recent advances are now enabling the use of adult zebrafish that have unique advantages for modelling adult disease.
PERSPECTIVE
Transposable elements in normal and malignant hematopoiesis
Summary: Transposable elements exert a functional role on hematopoiesis and disease throughout life. Further characterization of these repetitive elements will open new diagnostic and therapeutic avenues.
SPECIAL ARTICLE
Zebrafish regulatory genomic resources for disease modelling and regeneration
Summary: Regulatory genomics resources for zebrafish need to be expanded to fulfil this model's potential in exploring the genetics of human disease. Bulk and single-cell genomics resources offer complementary advantages, which are best exploited by improving data integration.
REVIEW
Studying exogenous extracellular vesicle biodistribution by in vivo fluorescence microscopy
Summary: This Review discusses how to optimise fluorescence imaging for studying the fate and biodistribution of exogenous extracellular vesicles, including fluorescent dyes, methods of labelling, excess dye removal and image acquisition.
EDITOR'S CHOICE
RESEARCH ARTICLES
The loop-tail mouse model displays open and closed caudal neural tube defects
Summary: Loop-tail mice develop closed caudal neural tube defects and present cellular aggregates that may facilitate the sealing of these defects, and can thus be used as a model to study these congenital malformations.
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4
Summary: We identified a variant in KLC4 associated with hereditary spastic paraplegia. The variant had physiological relevance in a humanized C. elegans model in which we replaced klc-2 with human KLC4.
Disrupting Hedgehog signaling in melanocytes by SUFU knockout leads to ocular melanocytosis and anterior segment malformation
Summary: Sufu deletion in the melanocyte lineage selectively interrupts ocular melanocyte development, leading to ocular melanocytosis and malformation of the anterior segment of the eye.
Clonal architecture and evolutionary history of Waldenström's macroglobulinemia at the single-cell level
Summary: Our study shows, for the first time, the clonal architecture of Waldenström's macroglobulinemia at the single-cell level, providing insight into how the oncogenic process can occur.
Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance
Summary: Global Slc7a7 deficiency causes postnatal growth failure with low plasma IGF-1 concentrations and delayed skeletal development, but Slc7a7 deficiency in the osteoblastic lineage is not a major contributor to these phenotypes.
Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants
Summary: Analyses of CCDC50 mutations in mice and cultured cells suggest that the mechanism of pathogenesis underlying human DFNA44 deafness is likely a dominant-negative or gain-of-function effect.
An interaction between OTULIN and SCRIB uncovers roles for linear ubiquitination in planar cell polarity
Summary: OTULIN interacts with SCRIB, can regulate the association of linear ubiquitin chains with planar cell polarity (PCP) components and, in MDA-MB-231 cells, affects hallmark PCP features, including Wnt5a-induced filopodia extension and VANGL2 trafficking.
CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease
Summary: In vivo modeling revealed that cardiac development crucially depends on the transcription factor MYRF. Changes in single nucleotides in conserved protein domains of MYRF cause severe heart defects.
A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes
Summary: Characterization of a novel porcine model of CLN3 Batten disease showing behavioral, pathological and ocular deficits as seen in individuals with CLN3, demonstrating its value in studying this disease and the efficacy of various therapeutics.
Acetaldehyde and defective mismatch repair increase colonic tumours in a Lynch syndrome model with Aldh1b1 inactivation
Editors' choice: Increased acetaldehyde levels are associated with acceleration of defective mismatch repair-driven colonic tumour development in models of Lynch syndrome with inactivated Aldh1b1, involving DNA damage responses and decreased apoptosis.
RESOURCE ARTICLE
An inducible model of chronic hyperglycemia
Summary: Taking advantage of a new nitroreductase with higher activity, we developed transgenic zebrafish lines that can be used to induce chronic hyperglycemia and can be used to model a diabetic state.
FIRST PERSON
PREPRINT HIGHLIGHTS
DMM Journal Meeting 2024: Pre-clinical Modelling of Human Genetic Disease and Therapy

Registration is now open for our 2024 Journal Meeting. Rapid advances in gene editing and genetic technologies have revolutionised our ability to model human genetic disease and provided new hope for gene therapies. At this Meeting, we will present the very latest advances in modelling human genetic disease.
A new call for papers is underway

Showcase your latest research in our upcoming special issue Translating Multiscale Research in Rare Disease, coordinated by DMM Editors Monica Justice, Karen Liu and Monkol Lek, and Guest Editor Kate Rauen. The deadline for submitting articles to the special issue is Monday 6 November 2023.
Moving towards heart success – Disease Models & Mechanisms Special Issue

DMM's most recent special issue compiles articles that aim to move heart failure to heart success by fundamentally addressing the roots of failure to identify curative strategies.
Adult zebrafish as advanced models of human disease

Editor-in-Chief Liz Patton and Editorial Board member Rich White discuss the unique advantages of adult zebrafish for studying human disease biology. Read the Open Access Editorial here.
The Forest of Biologists

The Forest of Biologists is a biodiversity initiative created by The Company of Biologists, with support from the Woodland Trust. For every Research and Review article published in Disease Models & Mechanisms a native tree is planted in a UK forest. In addition to this we are protecting and restoring ancient woodland and are dedicating these trees to our peer reviewers. Visit our virtual forest to learn more.