Search

Your search keyword '"McKerlie, C. (Colin)"' showing total 3 results
Start Over Author "McKerlie, C. (Colin)"
3 results on '"McKerlie, C. (Colin)"'

1. INFRAFRONTIER quality principles in systemic phenotyping

Author

Ehlich, H. (Hilke), Cater, H. L. (Heather L.), Flenniken, A. M. (Ann M.), Goncalves Da Cruz, I. (Isabelle), Mura, A.-M. (Anne-Marie), Ntafis, V. (Vasileios), Raess, M. (Michael), Selloum, M. (Mohammed), Stoeger, C. (Claudia), Suchanova, S. (Sarka), Vuolteenaho, R. (Reetta), Brown, S. D. (Steve D. M.), Hérault, Y. (Yann), Hinttala, R. (Reetta), Hrabě de Angelis, M. (Martin), Kollias, G. (George), Kontoyiannis, D. L. (Dimitris L.), Malissen, B. (Bernard), McKerlie, C. (Colin), Sedláček, R. (Radislav), Wells, S. E. (Sara E.), Zarubica, A. (Ana), Rozman, J. (Jan), Sorg, T. (Tania), Ehlich, H. (Hilke), Cater, H. L. (Heather L.), Flenniken, A. M. (Ann M.), Goncalves Da Cruz, I. (Isabelle), Mura, A.-M. (Anne-Marie), Ntafis, V. (Vasileios), Raess, M. (Michael), Selloum, M. (Mohammed), Stoeger, C. (Claudia), Suchanova, S. (Sarka), Vuolteenaho, R. (Reetta), Brown, S. D. (Steve D. M.), Hérault, Y. (Yann), Hinttala, R. (Reetta), Hrabě de Angelis, M. (Martin), Kollias, G. (George), Kontoyiannis, D. L. (Dimitris L.), Malissen, B. (Bernard), McKerlie, C. (Colin), Sedláček, R. (Radislav), Wells, S. E. (Sara E.), Zarubica, A. (Ana), Rozman, J. (Jan), and Sorg, T. (Tania)

Abstract

Improving reproducibility and replicability in preclinical research is a widely discussed and pertinent topic, especially regarding ethical responsibility in animal research. INFRAFRONTIER, the European Research Infrastructure for the generation, phenotyping, archiving, and distribution of model mammalian genomes, is addressing this issue by developing internal quality principles for its different service areas, that provides a quality framework for its operational activities. This article introduces the INFRAFRONTIER Quality Principles in Systemic Phenotyping of genetically altered mouse models. A total of 11 key principles are included, ranging from general requirements for compliance with guidelines on animal testing, to the need for well-trained personnel and more specific standards such as the exchange of reference lines. Recently established requirements such as the provision of FAIR (Findable, Accessible, Interoperable, Reusable) data are also addressed. For each quality principle, we have outlined the specific context, requirements, further recommendations, and key references.

Published
2022

2. Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease

Author

Hiltunen, A. E. (Anniina E.), Kangas, S. M. (Salla M.), Ohlmeier, S. (Steffen), Pietilä, I. (Ilkka), Hiltunen, J. (Jori), Tanila, H. (Heikki), McKerlie, C. (Colin), Govindan, S. (Subashika), Tuominen, H. (Hannu), Kaarteenaho, R. (Riitta), Hallman, M. (Mikko), Uusimaa, J. (Johanna), Hinttala, R. (Reetta), Hiltunen, A. E. (Anniina E.), Kangas, S. M. (Salla M.), Ohlmeier, S. (Steffen), Pietilä, I. (Ilkka), Hiltunen, J. (Jori), Tanila, H. (Heikki), McKerlie, C. (Colin), Govindan, S. (Subashika), Tuominen, H. (Hannu), Kaarteenaho, R. (Riitta), Hallman, M. (Mikko), Uusimaa, J. (Johanna), and Hinttala, R. (Reetta)

Abstract

Background: FINCA disease is a pediatric cerebropulmonary disease caused by variants in the NHL repeat-containing 2 (NHLRC2) gene. Neurological symptoms are among the first manifestations of FINCA disease, but the consequences of NHLRC2 deficiency in the central nervous system are currently unexplored. Methods: The orthologous mouse gene is essential for development, and its complete loss leads to early embryonic lethality. In the current study, we used CRISPR/Cas9 to generate an Nhlrc2 knockin (KI) mouse line, harboring the FINCA patient missense mutation (c.442G > T, p.Asp148Tyr). A FINCA mouse model, resembling the compound heterozygote genotype of FINCA patients, was obtained by crossing the KI and Nhlrc2 knockout mouse lines. To reveal NHLRC2-interacting proteins in developing neurons, we compared cortical neuronal precursor cells of E13.5 FINCA and wild-type mouse embryos by two-dimensional difference gel electrophoresis. Results: Despite the significant decrease in NHLRC2, the mice did not develop severe early onset multiorgan disease in either sex. We discovered 19 altered proteins in FINCA neuronal precursor cells; several of which are involved in vesicular transport pathways and actin dynamics which have been previously reported in other cell types including human to have an association with dysfunctional NHLRC2. Interestingly, isoform C2 of hnRNP C1/C2 was significantly increased in both developing neurons and the hippocampus of adult female FINCA mice, connecting NHLRC2 dysfunction with accumulation of RNA binding protein. Conclusions: We describe here the first NHLRC2-deficient mouse model to overcome embryonic lethality, enabling further studies on predisposing and causative mechanisms behind FINCA disease. Our novel findings suggest that disrupted RNA metabolism may contribute to the neurodegeneration observed in FINCA patients.

Published
2020

3. The mammalian gene function resource: The International Knockout Mouse Consortium

Author

Bradley, A. (Allan), Anastassiadis, K. (Konstantinos), Ayadi, A. (Abdelkader), Battey, J.F. (James), Bell, C. (Cindy), Birling, M.-C. (Marie-Christine), Bottomley, J. (Joanna), Brown, S.D.M. (Steve), Bürger, F. (Friederike), Bult, C.J. (Carol), Bushell, W. (Wendy), Collins, F.S. (Francis), Desaintes, C. (Christian), Doe, B. (Brendan), Aris, E. (Economides), Eppig, J.T. (Janan), Finnell, R.H. (Richard), Fletcher, C. (Colin), Fray, M. (Martin), Frendewey, D. (David), Friedel, R.H. (Roland), Grosveld, F.G. (Frank), Hansen, J., Hérault, Y. (Yann), Hicks, G. (Geoffrey), Hörlein, A. (Andreas), Houghton, C. (Catherine), Hrabé De Angelis, M. (Martin), Huylebroeck, D. (Danny), Iyer, V. (Vivek), Jong, P.J. (Pieter) de, Kadin, J.A. (James), Kaloff, C. (Cornelia), Kennedy, K. (Karen), Koutsourakis, M. (Manousos), Kent Lloyd, K.C., Marschall, S. (Susan), Mason, J. (Jeremy), McKerlie, C. (Colin), McLeod, M.P. (Michael), Melchner, H. (Harald) von, Moore, M. (Matt), Mujica, A.O. (Alejandro), Nagy, A. (Andras), Nefedov, M. (Mikhail), Nutter, L.M. (Lauryl), Pavlovic, G. (Guillaume), Peterson, J.L. (Jane), Pollock, I., Ramirez-Solis, R. (Ramiro), Rancourt, D.E. (Derrick), Raspa, M. (Marcello), Remacle, J.E. (Jacques), Ringwald, M. (Martin), Rosen, B. (Barry), Rosenthal, N. (Nadia), Rossant, J. (Janet), Ruiz Noppinger, P. (Patricia), Ryder, S. (Steve), Schick, J.Z. (Joel Zupicich), Schnütgen, F. (Frank), Schofield, C.J. (Christopher), Seisenberger, C. (Claudia), Selloum, M. (Mohammed), Simpson, E.M. (Elizabeth), Skarnes, W.C. (William), Smedley, D. (Damian), Stanford, W.L. (William), Stewart, A.F. (Francis), Stone, K. (Kevin), Swan, K. (Kate), Tadepally, H. (Hamsa), Teboul, J.L. (Jean Louis), Tocchini-Valentini, G.P. (Glauco), Valenzuela, D. (David), West, A.P. (Anthony), Yamamura, K.-I. (Ken-Ichi), Yoshinaga, Y. (Yuko), Wurst, M. (Martin), Bradley, A. (Allan), Anastassiadis, K. (Konstantinos), Ayadi, A. (Abdelkader), Battey, J.F. (James), Bell, C. (Cindy), Birling, M.-C. (Marie-Christine), Bottomley, J. (Joanna), Brown, S.D.M. (Steve), Bürger, F. (Friederike), Bult, C.J. (Carol), Bushell, W. (Wendy), Collins, F.S. (Francis), Desaintes, C. (Christian), Doe, B. (Brendan), Aris, E. (Economides), Eppig, J.T. (Janan), Finnell, R.H. (Richard), Fletcher, C. (Colin), Fray, M. (Martin), Frendewey, D. (David), Friedel, R.H. (Roland), Grosveld, F.G. (Frank), Hansen, J., Hérault, Y. (Yann), Hicks, G. (Geoffrey), Hörlein, A. (Andreas), Houghton, C. (Catherine), Hrabé De Angelis, M. (Martin), Huylebroeck, D. (Danny), Iyer, V. (Vivek), Jong, P.J. (Pieter) de, Kadin, J.A. (James), Kaloff, C. (Cornelia), Kennedy, K. (Karen), Koutsourakis, M. (Manousos), Kent Lloyd, K.C., Marschall, S. (Susan), Mason, J. (Jeremy), McKerlie, C. (Colin), McLeod, M.P. (Michael), Melchner, H. (Harald) von, Moore, M. (Matt), Mujica, A.O. (Alejandro), Nagy, A. (Andras), Nefedov, M. (Mikhail), Nutter, L.M. (Lauryl), Pavlovic, G. (Guillaume), Peterson, J.L. (Jane), Pollock, I., Ramirez-Solis, R. (Ramiro), Rancourt, D.E. (Derrick), Raspa, M. (Marcello), Remacle, J.E. (Jacques), Ringwald, M. (Martin), Rosen, B. (Barry), Rosenthal, N. (Nadia), Rossant, J. (Janet), Ruiz Noppinger, P. (Patricia), Ryder, S. (Steve), Schick, J.Z. (Joel Zupicich), Schnütgen, F. (Frank), Schofield, C.J. (Christopher), Seisenberger, C. (Claudia), Selloum, M. (Mohammed), Simpson, E.M. (Elizabeth), Skarnes, W.C. (William), Smedley, D. (Damian), Stanford, W.L. (William), Stewart, A.F. (Francis), Stone, K. (Kevin), Swan, K. (Kate), Tadepally, H. (Hamsa), Teboul, J.L. (Jean Louis), Tocchini-Valentini, G.P. (Glauco), Valenzuela, D. (David), West, A.P. (Anthony), Yamamura, K.-I. (Ken-Ichi), Yoshinaga, Y. (Yuko), and Wurst, M. (Martin)

Abstract

In 2007, the International Knockout Mouse Consortium (IKMC) made the ambitious promise to generate mutations in virtually every protein-coding gene of the mouse genome in a concerted worldwide action. Now, 5 years later, the IKMC members have developed highthroughput gene trapping and, in particular, gene-targeting pipelines and generated more than 17,400 mutant murine embryonic stem (ES) cell clones and more than 1,700 mutant mouse strains, most of them conditional. A common IKMC web portal (www.knockoutmouse.org) has been established, allowing easy access to this unparalleled biological resource. The IKMC materials considerably enhance functional gene annotation of the mammalian genome and will have a major impact on future biomedical research.

Published
2012
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results