New models for human disease from the International Mouse Phenotyping Consortium

P Cacheiro, MA Haendel, D Smedley - Mammalian Genome, 2019 - Springer
Abstract The International Mouse Phenotyping Consortium (IMPC) continues to expand the
catalogue of mammalian gene function by conducting genome and phenome-wide …

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

SK Akula, JH Marciano, Y Lim… - Proceedings of the …, 2023 - National Acad Sciences
Sonic hedgehog signaling regulates processes of embryonic development across multiple
tissues, yet factors regulating context-specific Shh signaling remain poorly understood …

[HTML][HTML] Three-dimensional microCT imaging of mouse development from early post-implantation to early postnatal stages

CW Hsu, L Wong, TL Rasmussen, S Kalaga… - Developmental …, 2016 - Elsevier
In this work, we report the use of iodine-contrast microCT to perform high-throughput 3D
morphological analysis of mouse embryos and neonates between embryonic day 8.5 to …

A novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits

K Cleverley, WC Lee, P Mumford, T Collins… - Mammalian …, 2021 - Springer
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 …

Absence of Embigin accelerates hearing loss and causes sub-viability, brain and heart defects in C57BL/6N mice due to interaction with Cdh23ahl

S Newton, C Aguilar, RK Bunton-Stasyshyn, M Flook… - Iscience, 2023 - cell.com
Mouse studies continue to help elaborate upon the genetic landscape of mammalian
disease and the underlying molecular mechanisms. Here, we have investigated an Embigin …

LAMA: automated image analysis for the developmental phenotyping of mouse embryos

NR Horner, S Venkataraman, C Armit… - …, 2021 - journals.biologists.com
Advanced 3D imaging modalities, such as micro-computed tomography (micro-CT), have
been incorporated into the high-throughput embryo pipeline of the International Mouse …

Pathogenesis of anorectal malformations in Retinoic Acid Receptor knockout mice studied by HREM

M Mark, M Teletin, O Wendling, JL Vonesch, B Féret… - Biomedicines, 2021 - mdpi.com
Anorectal malformations (ARMs) are relatively common congenital abnormalities, but their
pathogenesis is poorly understood. Previous gene knockout studies indicated that the …

[PDF][PDF] Cleft palate and minor metabolic disturbances in a mouse global Arl15 gene knockout.

Y Bai, L Bentley, C Ma, N Naveenan, J Cleak, Y Wu… - 2023 - repository.ubn.ru.nl
ARL15, a small GTPase protein, was linked to metabolic traits in association studies. We
aimed to test the Arl15 gene as a functional candidate for metabolic traits in the mouse …

Skeletal screening IMPC/KOMP using μCT and computer automated cryohistology: Application to the Efna4 KO mouse line

DW Rowe, SH Hong, C Zhang, DG Shin, DJ Adams… - Bone, 2021 - Elsevier
The IMPC/KOMP program provides the opportunity to screen mice harboring well defined
gene-inactivation mutations in a uniform genetic background. The program performs a …

The Genetics of Cortical Folding Disorders: From Mechanisms to Diagnosis

SK Akula - 2022 - search.proquest.com
Gyration is a feature of many mammalian neocortices; though the developmental
mechanisms that produce cortical gyri are poorly understood. Defects in gyrification can lead …