Disease Models & Mechanisms - discovery for human health. A @Co_Biologists Open Access journal that publishes human disease research.
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ALT photo of James Amatruda
ALT Photo of Genevieve Kendall
ALT Photo of Joelle Straehla and DMM logo
ALT Multi-panel figure showing lateral views of mouse embryos at embryonic days E12.5, E13.5, and E14.5, arranged in rows and columns (panels A–O). Embryos have been stained with X-gal blue to detect β-galactosidase, which signifies Cre expression and thus active DUX4 regulatory elements. Each row corresponds to a developmental stage, and columns compare different genotypes: reporter-only controls (A, F, K) with little or no blue staining; ACTA1-cre controls (B, G, L) showing widespread blue staining throughout skeletal muscle; and three transgenic insertion lines (#6, #7, #11; panels C–E, H–J, M–O) with localized X-gal blue staining. In transgenic embryos, blue signal appears in forelimbs (white arrows), hindlimbs (red arrows), and facial regions near the lip corner/zygomaticus (red arrowheads). Staining intensity and distribution increase with developmental stage. A scale bar indicates 1 mm.
ALT Photo of Claudia Kleinman
ALT Schematic overview of the molecular features modeled in the knock-in HTT minipig (KI-85Q-HD). The KI-85Q-HD minipig recapitulates key molecular hallmarks of Huntington's disease: somatic CAG repeat instability and alternative processing of HTT pre-mRNA. (1) A (CAG)82CAA(CAG)2 repeat was introduced into the endogenous porcine HTT locus by CRISPR/Cas9 editing of exon 1. (2) The expanded allele undergoes tissue-specific and age-dependent somatic CAG repeat expansion, with the largest changes detected in the caudate nucleus, kidney and spleen. (3) Full-length HTT mRNA is translated into full-length HTT protein, while activation of a cryptic polyadenylation site (asterisk) within intron 1 generates the HTT1a transcript, which encodes the short, aggregation-prone HTT1a protein.
ALT An illustration of a mouse running in a wheel with the title 'Animal behaviour and cognition'.
ALT Photo of Lena Kutscher
ALT Top image is a wildtype zebrafish embryo at 4 days post fertilisation. Bottom image is a zebrafish embryo that has a maternal zygotic homozygous mutation in the folate receptor, also at 4 days post fertilisation. Without any drug exposure, the folate receptor mutant embryos display phenotypes such as cardiac edema and curved tails with ventral thickening.
ALT Photo of Liz and Jay Scott
ALT Photo of Mimi Bandopadhayay