Commentary: The International Mouse Phenotyping Consortium: high-throughput in vivo functional annotation of the mammalian genome

被引:0
作者
Lloyd, K. C. Kent [1 ,2 ]
机构
[1] Univ Calif Davis, Sch Med, Dept Surg, Davis, CA 95616 USA
[2] Univ Calif Davis, Mouse Biol Program, Davis, CA 95616 USA
基金
美国国家卫生研究院;
关键词
WIDE; IDENTIFICATION; DISCOVERY; RESOURCE;
D O I
10.1007/s00335-024-10068-x
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The International Mouse Phenotyping Consortium (IMPC) is a worldwide effort producing and phenotyping knockout mouse lines to expose the pathophysiological roles of all genes in human diseases and make mice and data available and accessible to the global research community. It has created new knowledge on the function of thousands of genes for which little to anything was known. This new knowledge has informed the genetic basis of rare diseases, posited gene product influences on common diseases, influenced research on targeted therapies, revealed functional pleiotropy, essentiality, and sexual dimorphism, and many more insights into the role of genes in health and disease. Its scientific contributions have been many and widespread, however there remain thousands of "dark" genes yet to be illuminated. Nearing the end of its current funding cycle, IMPC is at a crossroads. The vision forward is clear, the path to proceed less so.
引用
收藏
页码:537 / 543
页数:7
相关论文
共 43 条
  • [1] INFRAFRONTIER: mouse model resources for modelling human diseases
    Ali Khan, Asrar
    Valera Vazquez, Gema
    Gustems, Montse
    Matteoni, Rafaele
    Song, Fei
    Gormanns, Philipp
    Fessele, Sabine
    Raess, Michael
    de Angelis, Martin
    INFRAFRONTIER Consortium
    [J]. MAMMALIAN GENOME, 2023, 34 (03) : 408 - 417
  • [2] The Mutant Mouse Resource and Research Center (MMRRC): the NIH-supported National Public Repository and Distribution Archive of Mutant Mouse Models in the USA
    Amos-Landgraf, James
    Franklin, Craig
    Godfrey, Virginia
    Grieder, Franziska
    Grimsrud, Kristin
    Korf, Ian
    Lutz, Cat
    Magnuson, Terry
    Mirochnitchenko, Oleg
    Patel, Samit
    Reinholdt, Laura
    Lloyd, K. C. Kent
    [J]. MAMMALIAN GENOME, 2022, 33 (01) : 203 - 212
  • [3] The knockout mouse project
    Austin, CP
    Battey, JF
    Bradley, A
    Bucan, M
    Capecchi, M
    Collins, FS
    Dove, WF
    Duyk, G
    Dymecki, S
    Eppig, JT
    Grieder, FB
    Heintz, N
    Hicks, G
    Insel, TR
    Joyner, A
    Koller, BH
    Lloyd, KCK
    Magnuson, T
    Moore, MW
    Nagy, A
    Pollock, JD
    Roses, AD
    Sands, AT
    Seed, B
    Skarnes, WC
    Snoddy, J
    Soriano, P
    Stewart, DJ
    Stewart, F
    Stillman, B
    Varmus, H
    Varticovski, L
    Verma, IM
    Vogt, TF
    von Melchner, H
    Witkowski, J
    Woychik, RP
    Wurst, W
    Yancopoulos, GD
    Young, SG
    Zambrowicz, B
    [J]. NATURE GENETICS, 2004, 36 (09) : 921 - 924
  • [4] The European dimension for the mouse genome mutagenesis program
    Auwerx, J
    Avner, P
    Baldock, R
    Ballabio, A
    Balling, R
    Barbacid, M
    Berns, A
    Bradley, A
    Brown, S
    Carmeliet, P
    Chambon, P
    Cox, R
    Davidson, D
    Davies, K
    Duboule, D
    Forejt, J
    Granucci, F
    Hastie, N
    de Angelis, MH
    Jackson, I
    Kioussis, D
    Kollias, G
    Lathrop, M
    Lendahl, U
    Malumbres, M
    von Melchner, H
    Müller, W
    Partanen, J
    Ricciardi-Castagnoli, P
    Rigby, P
    Rosen, B
    Rosenthal, N
    Skarnes, B
    Stewart, AF
    Thornton, J
    Tocchini-Valentini, G
    Wagner, E
    Wahli, W
    Wurst, W
    [J]. NATURE GENETICS, 2004, 36 (09) : 925 - 927
  • [5] A resource of targeted mutant mouse lines for 5,061 genes
    Birling, Marie-Christine
    Yoshiki, Atsushi
    Adams, David J.
    Ayabe, Shinya
    Beaudet, Arthur L.
    Bottomley, Joanna
    Bradley, Allan
    Brown, Steve D. M.
    Buerger, Antje
    Bushell, Wendy
    Chiani, Francesco
    Chin, Hsian-Jean Genie
    Christou, Skevoulla
    Codner, Gemma F.
    DeMayo, Francesco J.
    Dickinson, Mary E.
    Doe, Brendan
    Donahue, Leah Rae
    Fray, Martin D.
    Gambadoro, Alessia
    Gao, Xiang
    Gertsenstein, Marina
    Gomez-Segura, Alba
    Goodwin, Leslie O.
    Heaney, Jason D.
    Herault, Yann
    de Angelis, Martin Hrabe
    Jiang, Si-Tse
    Justice, Monica J.
    Kasparek, Petr
    King, Ruairidh E.
    Kuhn, Ralf
    Lee, Ho
    Lee, Young Jae
    Liu, Zhiwei
    Lloyd, K. C. Kent
    Lorenzo, Isabel
    Mallon, Ann-Marie
    McKerlie, Colin
    Meehan, Terrence F.
    Fuentes, Violeta Munoz
    Newman, Stuart
    Nutter, Lauryl M. J.
    Oh, Goo Taeg
    Pavlovic, Guillaume
    Ramirez-Solis, Ramiro
    Rosen, Barry
    Ryder, Edward J.
    Santos, Luis A.
    Schick, Joel
    [J]. NATURE GENETICS, 2021, 53 (04) : 416 - 419
  • [6] A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction
    Bowl, Michael R.
    Simon, Michelle M.
    Ingham, Neil J.
    Greenaway, Simon
    Santos, Luis
    Cater, Heather
    Taylor, Sarah
    Mason, Jeremy
    Kurbatova, Natalja
    Pearson, Selina
    Bower, Lynette R.
    Clary, Dave A.
    Meziane, Hamid
    Reilly, Patrick
    Minowa, Osamu
    Kelsey, Lois
    Tocchini-Valentini, Glauco P.
    Gao, Xiang
    Bradley, Allan
    Skarnes, William C.
    Moore, Mark
    Beaudet, Arthur L.
    Justice, Monica J.
    Seavitt, John
    Dickinson, Mary E.
    Wurst, Wolfgang
    de Angelis, Martin Hrabe
    Herault, Yann
    Wakana, Shigeharu
    Nutter, Lauryl M. J.
    Flenniken, Ann M.
    McKerlie, Colin
    Murray, Stephen A.
    Svenson, Karen L.
    Braun, Robert E.
    West, David B.
    Lloyd, K. C. Kent
    Adams, David J.
    White, Jacqui
    Karp, Natasha
    Flicek, Paul
    Smedley, Damian
    Meehan, Terrence F.
    Parkinson, Helen E.
    Teboul, Lydia M.
    Wells, Sara
    Steel, Karen P.
    Mallon, Ann-Marie
    Brown, Steve D. M.
    [J]. NATURE COMMUNICATIONS, 2017, 8
  • [7] The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping
    Brown, Steve D. M.
    Moore, Mark W.
    [J]. MAMMALIAN GENOME, 2012, 23 (9-10) : 632 - 640
  • [8] The Functional Annotation of Mammalian Genomes: The Challenge of Phenotyping
    Brown, Steve D. M.
    Wurst, Wolfgang
    Kuehn, Ralf
    Hancock, John M.
    [J]. ANNUAL REVIEW OF GENETICS, 2009, 43 : 305 - 333
  • [9] Computational identification of disease models through cross-species phenotype comparison
    Cacheiro, Pilar
    Pava, Diego
    Parkinson, Helen
    VanZanten, Maya
    Wilson, Robert
    Gunes, Osman
    [J]. DISEASE MODELS & MECHANISMS, 2024, 17 (06)
  • [10] Mendelian gene identification through mouse embryo viability screening
    Cacheiro, Pilar
    Westerberg, Carl Henrik
    Mager, Jesse
    Dickinson, Mary E.
    Nutter, Lauryl M. J.
    Munoz-Fuentes, Violeta
    Hsu, Chih-Wei
    Van den Veyver, Ignatia B.
    Flenniken, Ann M.
    McKerlie, Colin
    Murray, Stephen A.
    Teboul, Lydia
    Heaney, Jason D.
    Lloyd, K. C. Kent
    Lanoue, Louise
    Braun, Robert E.
    White, Jacqueline K.
    Creighton, Amie K.
    Laurin, Valerie
    Guo, Ruolin
    Qu, Dawei
    Wells, Sara
    Cleak, James
    Bunton-Stasyshyn, Rosie
    Stewart, Michelle
    Harrisson, Jackie
    Mason, Jeremy
    Mashhadi, Hamed Haseli
    Parkinson, Helen
    Mallon, Ann-Marie
    Smedley, Damian
    [J]. GENOME MEDICINE, 2022, 14 (01)