Ruth M. Arkell

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis

Laura M. Watts, Michelle S.M. Chang, Elizabeth Lewis-Orr, Isaac S. Walton et autres

PURPOSE: ZIC1 encodes a transcription factor with critical roles in vertebrate neural and skeletal development. Heterozygous deletions encompassing ZIC1 and ZIC4 cause Dandy-Walker malformation, whilst in the final exon heterozygous ZIC1 variants result in a distinct phenotype of craniosynostosis with variable intellectual …

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Comprehensive defect detection in mouse embryos and the heart by combining automated phenotyping with novel population averages and atlases

Ella.M.M.A. Martin, Kyle A. Drover, Anton Shpak, Neil Horner et autres

Micro-CT has become the standard for the assessment of malformations in mouse embryos because it allows the visualisation of internal structures in the context of the intact embryo. Statistical comparison of volume differences is possible via manual segmentation of organs of interest …

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Ontogeny of the spinal cord dorsal horn

R. Brian Roome, Archana Yadav, Lydia Flores, Amrit Kaur Puarr et autres

The dorsal horn of the mammalian spinal cord is organized into laminae where each layer is populated by different neuron types, has distinctive circuit connections, and plays specialized roles in behavior. An outstanding question is how this organization emerges during development from …

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AK2‐Deficient Mice Recapitulate Impaired Lymphopoiesis of Reticular Dysgenesis Patients, but Also Lack Erythropoiesis

Rebekka Waldmann, Franziska Werner, Alpaslan Tasdogan, Felix Immanuel Maier et autres

severe combined immunodeficiency, agranulocytosis, and sensorineural deafness. We established and characterized a haematopoiesis-specific conditional Ak2-knockout mouse model to provide a model system to study the molecular pathophysiology of RD. As expected from the human phenotype of RD, haematopoiesis-specific AK2-deficient embryos had a …

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Complementarity and integration of animal and in vitro non-animal pre-clinical model systems– an Australian perspective

Ruth M. Arkell, Ernst J. Wolvetang, Twishi Gulati, James Hennessy et autres

Recent advances in the development of pre-clinical models based on non-animal technologies (NATs) have stimulated expectations that the use of animals in research may soon be phased out. The true value of innovations in NATs and their applications lies, however, in enabling …

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Ontogeny of the spinal cord dorsal horn

R. Brian Roome, Archana Yadav, Lydia Flores, Amrit Kaur Puarr et autres

Summary The dorsal horn of the mammalian spinal cord is an exquisite example of form serving function. It is comprised of diverse neuronal populations stacked into laminae, each of which receives different circuit connections and plays specialized roles in behavior. An outstanding …

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Improving laboratory animal genetic reporting: LAG-R guidelines

Lydia Teboul, James Amos‐Landgraf, Fernando Benavides, Marie‐Christine Birling et autres

The biomedical research community addresses reproducibility challenges in animal studies through standardized nomenclature, improved experimental design, transparent reporting, data sharing, and centralized repositories. The ARRIVE guidelines outline documentation standards for laboratory animals in experiments, but genetic information is often incomplete. To remedy …

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Patterning of the antero‐ventral mammalian brain: Lessons from holoprosencephaly comparative biology in man and mouse

Kristen S. Barratt, Kyle A. Drover, Zoe M. Thomas, Ruth M. Arkell

Adult form and function are dependent upon the activity of specialized signaling centers that act early in development at the embryonic midline. These centers instruct the surrounding cells to adopt a positional fate and to form the patterned structures of the phylotypic …

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SUMOylation Potentiates ZIC Protein Activity to Influence Murine Neural Crest Cell Specification

Helen M. Bellchambers, Kristen S. Barratt, Koula E. M. Diamand, Ruth M. Arkell

The mechanisms of neural crest cell induction and specification are highly conserved among vertebrate model organisms, but how similar these mechanisms are in mammalian neural crest cell formation remains open to question. The zinc finger of the cerebellum 1 (ZIC1) transcription factor …

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Disruption of entire Cables2 locus leads to embryonic lethality by diminished Rps21 gene expression and enhanced p53 pathway

Tra Thi Huong Dinh, Hiroyoshi Iseki, Seiya Mizuno, Saori Iijima-Mizuno et autres

In vivo function of CDK5 and Abl enzyme substrate 2 (Cables2), belonging to the Cables protein family, is unknown. Here, we found that targeted disruption of the entire Cables2 locus ( Cables2d ) caused growth retardation and enhanced apoptosis at the gastrulation …

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WNT-responsive SUMOylation of ZIC5 promotes murine neural crest cell development, having multiple effects on transcription

Radiya G. Ali, Helen M. Bellchambers, Nick Warr, Jehangir N. Ahmed et autres

Zinc finger of the cerebellum (Zic) proteins act as classic transcription factors to promote transcription of the Foxd3 gene during neural crest cell specification. Additionally, they can act as co-factors that bind proteins from the T-cell factor/lymphoid enhancing factor (TCF/LEF) family (TCFs) …

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Kathryn V. Anderson (1952–2020)

Ruth M. Arkell, Sally L. Dunwoodie, Anna‐Katerina Hadjantonakis, Elizabeth J. Robertson

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