scholarly journals A resource of targeted mutant mouse lines for 5,061 genes

2021 ◽  
Author(s):  
Marie-Christine Birling ◽  
◽  
Atsushi Yoshiki ◽  
David J. Adams ◽  
Shinya Ayabe ◽  
...  
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2012 ◽  
pp. 459-469 ◽  
Author(s):  
M. Willershäuser ◽  
N. Ehrhardt ◽  
R. Elvert ◽  
E. K. Wirth ◽  
U. Schweizer ◽  
...  

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. SCI-22-SCI-22
Author(s):  
Matthias W. Hentze

Abstract Abstract SCI-22 Imbalances of iron homeostasis account for some of the most common human diseases. Pathologies can result from both iron deficiency or overload. The hepcidin/ferroportin and the IRE/IRP regulatory systems balance systemic and cellular iron metabolism, respectively, and understanding their points of intersection and crosstalk represents a major challenge in iron biology. I will discuss an emerging picture from studies with different mutant mouse lines according to which the “cellular” IRE/IRP system determines “set points” via its targets (including ferroportin and HIF2α). These are then subject to modulation via hepcidin in response to systemic cues. Disclosures: No relevant conflicts of interest to declare.


1997 ◽  
Vol 52 (3) ◽  
pp. 380-388 ◽  
Author(s):  
Riikka Mäkelä ◽  
Mikko Uusi-Oukari ◽  
Gregg E. Homanics ◽  
Joseph J. Quinlan ◽  
Leonard L. Firestone ◽  
...  

2005 ◽  
Vol 11 (12) ◽  
pp. 871-880 ◽  
Author(s):  
C.L. Kennedy ◽  
A.E. O’Connor ◽  
L.G. Sanchez-Partida ◽  
M.K. Holland ◽  
C.C. Goodnow ◽  
...  

Blood ◽  
2004 ◽  
Vol 103 (1) ◽  
pp. 152-154 ◽  
Author(s):  
Eric Camerer ◽  
Daniel N. Duong ◽  
Justin R. Hamilton ◽  
Shaun R. Coughlin

Abstract The availability of the relevant mutant mouse lines provided an opportunity to test the doctrine that platelet activation and fibrin formation account for the importance of thrombin for hemostasis. Prothrombin-deficient mice that survive to birth exsanguinate in the perinatal period. By contrast, protease-activated receptor 4 (PAR4)–deficient mice, which have platelets that fail to respond to thrombin, survive to adulthood with only a mild bleeding diathesis, and fibrinogen-deficient mice show perinatal bleeding but those that survive this period can have a relatively normal life expectancy. We now report that mice that lacked both PAR4 and fibrinogen exsanguinated at birth like prothrombin-deficient mice. However, while approximately half of prothrombindeficient embryos die during midgestation, mice lacking both PAR4 and fibrinogen developed normally. At face value, these results suggest that platelet activation and fibrin formation are together sufficient to account for the importance of thrombin for hemostasis but not for its importance for embryonic development.


2021 ◽  
Author(s):  
James Amos-Landgraf ◽  
Craig Franklin ◽  
Virginia Godfrey ◽  
Franziska Grieder ◽  
Kristin Grimsrud ◽  
...  

AbstractThe Mutant Mouse Resource and Research Center (MMRRC) Program is the pre-eminent public national mutant mouse repository and distribution archive in the USA, serving as a national resource of mutant mice available to the global scientific community for biomedical research. Established more than two decades ago with grants from the National Institutes of Health (NIH), the MMRRC Program supports a Consortium of regionally distributed and dedicated vivaria, laboratories, and offices (Centers) and an Informatics Coordination and Service Center (ICSC) at three academic teaching and research universities and one non-profit genetic research institution. The MMRRC Program accepts the submission of unique, scientifically rigorous, and experimentally valuable genetically altered and other mouse models donated by academic and commercial scientists and organizations for deposition, maintenance, preservation, and dissemination to scientists upon request. The four Centers maintain an archive of nearly 60,000 mutant alleles as live mice, frozen germplasm, and/or embryonic stem (ES) cells. Since its inception, the Centers have fulfilled 13,184 orders for mutant mouse models from 9591 scientists at 6626 institutions around the globe. Centers also provide numerous services that facilitate using mutant mouse models obtained from the MMRRC, including genetic assays, microbiome analysis, analytical phenotyping and pathology, cryorecovery, mouse husbandry, infectious disease surveillance and diagnosis, and disease modeling. The ICSC coordinates activities between the Centers, manages the website (mmrrc.org) and online catalog, and conducts communication, outreach, and education to the research community. Centers preserve, secure, and protect mutant mouse lines in perpetuity, promote rigor and reproducibility in scientific experiments using mice, provide experiential training and consultation in the responsible use of mice in research, and pursue cutting edge technologies to advance biomedical studies using mice to improve human health. Researchers benefit from an expansive list of well-defined mouse models of disease that meet the highest standards of rigor and reproducibility, while donating investigators benefit by having their mouse lines preserved, protected, and distributed in compliance with NIH policies.


2021 ◽  
Vol 15 ◽  
Author(s):  
Siavash Fazel Darbandi ◽  
Crystal Esau ◽  
Cindy Lesage-Pelletier ◽  
Simon Monis ◽  
Luc Poitras ◽  
...  

The Dlx homeodomain transcription factors play important roles in the differentiation and migration of GABAergic interneuron precursors. The mouse and human genomes each have six Dlx genes organized into three convergently transcribed bigene clusters (Dlx1/2, Dlx3/4, and Dlx5/6) with cis-regulatory elements (CREs) located in the intergenic region of each cluster. Amongst these, the I56i and I12b enhancers from the Dlx1/2 and Dlx5/6 locus, respectively, are active in the developing forebrain. I56i is also a binding site for GTF2I, a transcription factor whose function is associated with increased sociability and Williams–Beuren syndrome. In determining the regulatory roles of these CREs on forebrain development, we have generated mutant mouse-lines where Dlx forebrain intergenic enhancers have been deleted (I56i(–/–), I12b(–/–)). Loss of Dlx intergenic enhancers impairs expression of Dlx genes as well as some of their downstream targets or associated genes including Gad2 and Evf2. The loss of the I56i enhancer resulted in a transient decrease in GABA+ cells in the developing forebrain. The intergenic enhancer mutants also demonstrate increased sociability and learning deficits in a fear conditioning test. Characterizing mice with mutated Dlx intergenic enhancers will help us to further enhance our understanding of the role of these Dlx genes in forebrain development.


2021 ◽  
Vol 35 (5) ◽  
Author(s):  
Miriam Ryl ◽  
Alexander Urbasik ◽  
Kaspar Gierke ◽  
Norbert Babai ◽  
Anneka Joachimsthaler ◽  
...  
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