Selected reading mouse functional genomics

INFRAFRONTIER has collected publications covering different aspects of mouse functional genomics.

Mouse mutagenesis

Key references of INFRAFRONTIER partners

  • Abe K, Fuchs H, Boersma A, Hans W, Yu P, Kaladjiev S, Klaften M, Adler T, Cazada-Wack J, Mossbrugger I, Rathkolb B, Rozman J, Prehn J, Maraslioglu M, Kametani Y, Shimada S, Adamski J, Busch DH, Esposito I, Klingenspor M, Wolf E, Wurst W, Gailus-Durner V, Katan M, Marschall S, Soewarto D, Wagner S, Hrabé de Angelis M. A novel ENU-induced mutation in Phospholipase C gamma 2 causes inflammatory arthritis, metabolic defects, and in vitro infertility in the mouse. Arthritis Rheum. 2011; 63:1301-1311. PMID: 21305534
  • Aigner B, Rathkolb B, Klempt M, Wagner S, Michel D, Klaften M, Laufs J, Schneider B, Sedlmeier R, Hrabé de Angelis M. Generation of N-ethylN-nitrosourea-induced mouse mutants with deviations in hematological parameters. Mamm Genome 2011; 22, 495-505 PMID: 21553221
  • Aigner B, Rathkolb B, Klaften M, Sedlmeier R, Klempt M, Wagner S, Michel D, Mayer U, Klopstock T, Hrabé de Angelis M, Wolf E: Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in plasma enzyme activities as novel organ-specific disease models. Exp. Physiol. 2009; 94, 412-421 PMID: 19151073
  • Aigner B, Rathkolb B, Herbach N, Hrabé de Angelis M, Wanke R, Wolf. Diabetes models by screening for hyperglycemia in phenotype-driven ENU mouse mutagenesis projects. Am J Physiol Endocrinol Metab 2008; 294, E232-240 PMID: 18056790
  • Aigner B, Rathkolb B, Klempt M, Hrabé de Angelis M, Wolf E. N-ethyl-N-nitrosourea mutagenesis produced a small number of mice with altered plasma electrolyte levels. J Biomed Sci 2008; 16, 53-60 PMID: 19505327
  • Aigner B, Rathkolb B, Herbach N, Kemter E, Schessl C, Klaften M, Klempt M, Hrabé de Angelis M, Wanke R, Wolf E: Screening for increased plasma urea levels in a large-scale ENU mouse mutagenesis project reveals kidney disease models. Am. J. Physiol. Renal Physiol. 2007; 292, 1560-1567 PMID: 17264314
  • Aigner B, Rathkolb B, Mohr M, Klempt M, Hrabé de Angelis M, Wolf E: Generation of ENU-induced mouse mutants with hypocholesterolemia. Novel tools for dissecting plasma lipoprotein homeostasis. Lipids 2007;42, 731-737 PMID: 17554576
  • Illig T, Gieger C, Zhai GJ, Römisch-Margl W, Wang-Sattler R, Prehn C, Altmaier E, Kastenmüller G, Kato BS, Mewes H-W, Meitinger T, Hrabé de Angelis M, Kronenberg F, Soranzo N, Wichmann H-E*, Spector TD, Adamski J, Suhre K. A genome-wide perspective of genetic variation in human metabolism. Nat. Genet. 2010; 42, 137-141 PMID: 20037589
  • Jakob T, Köllisch GV, Howaldt M, Bewersdorff M, Rathkolb B, Müller ML, Sandholzer N, Nitschke L, Schiemann M, Mempel M, Ollert M, Neubauer A, Soewarto DA, Kremmer E, Ring J, Behrendt H, Flaswinkel H: Novel mouse mutants with primary cellular immunodeficiencies generated by genome-wide mutagenesis. J. Allergy Clin. Immunol. 2008; 121, 179-184 PMID: 17767948
  • Kumar S, Rathkolb B, Budde BS, Nürnberg P, de Angelis MH, Aigner B, Schneider MR. Gsdma3(I359N) is a novel ENU-induced mutant mouse line for studying the function of Gasdermin A4 in hair follicle and epidermis. J Dermatol Sci 2012; 76, 190-192 PMID: 22682752
  • Pawlak CR, Sanchis-Segura C, Soewarto D, Wagner S, Hrabé de Angelis M, Spanagel R: A Phenotype-driven ENU mutagenesis screen for the identification of dominant mutations involved in alcohol consumption. Mamm. Genome 2008; 19, 77-84 PMID: 18213483
  • Sabrautzki S., Janas E, Lorenz-Depiereux B, Calzada-Wack J, Aguilar-Pimentel JA, Rathkolb B., Adler T, Cohrs C., Hans W., Diener S, Fuchs H., Gailus-Durner V., Busch DH, Höfler H, Ollert M, Strom TM, Wolf E, Neff F, Hrabě de Angelis M. An ENU mutagensis derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease. Am J Pathol accepted (2013)
  • Sabrautzki S, Rubio-Aliaga I, Hans W, Fuchs H, Rathkolb B, Calzada-Wack J, Cohrs CM, Klaften M, Seedorf H, Eck S, Benet-Pagès A, Favor J, Esposito I, Strom TM, Wolf E, Lorenz-Depiereux B, Hrabě de Angelis M New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. Mamm Genome 2012; 23: 416-430 PMID: 22527485
  • Spyroglou A, Wagner S, Gomez-Sanchez C, Rathkolb B, Wolf E, Manolopoulou J, Reincke M, Bidlingmaier M, Hrabé de Angelis M, Beuschlein F: Utilization of a mutagenesis screen to generate mouse models of hyperaldosteronism. Endocrinology 2011; 152,326-331 PMID: 21068155
  • Van Buerck L, Schuster M, Rathkolb B, Sabrautzki S, Hrabě de Angelis M, Wolf E, Aigner B, Wanke R, Herbach N. Enhanced oxidative stress and endocrine pancreas alterations are linked to a novel glucokinase missense mutation in ENU-derived Munich Gck(D217V) mutants. Mol Cell Endocrinal 2012; 363: 139-148 PMID: 22698525
Mouse production

Key references of INFRAFRONTIER partners

  • Ayadi A, Birling MC, Bottomley J, Bussell J, Fuchs H, Fray M, Gailus-Durner V, Greenaway S, Houghton R, Karp N, Leblanc S, Lengger C, Maier H, Mallon AM, Marschall S, Melvin D, Morgan H, Pavlovic G, Ryder E, Skarnes WC, Selloum M, Ramirez-Solis R, Sorg T, Teboul L, Vasseur L, Walling A, Weaver T, Wells S, White JK, Bradley A, Adams DJ, Steel KP, Hrabě de Angelis M, Brown SD, Herault Y. Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project. Mamm Genome. 2012; 23: 600-610. PMID: 22961258
  • Bradley A, Anastassiadis K, Ayadi A, Battey JF, Bell C, Birling MC, Bottomley J, Brown SD, Bürger A, Bult CJ, Bushell W, Collins FS, Desaintes C, Doe B, Economides A, Eppig JT, Finnell RH, Fletcher C, Fray M, Frendewey D, Friedel RH, Grosveld FG, Hansen J, Hérault Y, Hicks G, Hörlein A, Houghton R, Hrabé de Angelis M, Huylebroeck D, Iyer V, de Jong PJ, Kadin JA, Kaloff C, Kennedy K, Koutsourakis M, Lloyd KC, Marschall S, Mason J, McKerlie C, McLeod MP, von Melchner H, Moore M, Mujica AO, Nagy A, Nefedov M, Nutter LM, Pavlovic G, Peterson JL, Pollock J, Ramirez-Solis R, Rancourt DE, Raspa M, Remacle JE, Ringwald M, Rosen B, Rosenthal N, Rossant J, Ruiz Noppinger P, Ryder E, Schick JZ, Schnütgen F, Schofield P, Seisenberger C, Selloum M, Simpson EM, Skarnes WC, Smedley D, Stanford WL, Stewart AF, Stone K, Swan K, Tadepally H, Teboul L, Tocchini-Valentini GP, Valenzuela D, West AP, Yamamura K, Yoshinaga Y, Wurst W. The mammalian gene function resource: the International Knockout Mouse Consortium. Mamm Genome. 2012; 580-586. PMID: 22968824
  • Brown SD, Moore MW. The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping. Mamm Genome 2012; 23: 632-640. PMID: 22940749
  • Ramírez-Solis R, Ryder E, Houghton R, White JK, Bottomley J. Large-scale mouse knockouts and phenotypes. Wiley Interdiscip Rev Syst Biol Med. 2012; 4: 547-563. PMID: 22899600
Mouse phenotyping

Key references of INFRAFRONTIER partners

  • Beckers J*, Wurst W*, Hrabé de Angelis M*: Towards better mouse models: Enhanced genotypes, systemic phenotyping and envirotype modelling. Nat. Rev. Genet. 2009; 10, 371-380. PMID: 19434078
  • Fuchs H, Gailus-Durner V, Neschen S, Adler T, Afonso LC, Aguilar-Pimentel JA, Becker L, Bohla A, Calzada-Wack J, Cohrs C, Dewert A, Fridrich B, Garrett L, Glasl L, Götz A, Hans W, Hölter SM, Horsch M, Hurt A, Janas E, Janik D, Kahle M, Kistler M, Klein-Rodewald T, Lengger C, Ludwig T, Maier H, Marschall S, Micklich K, Möller G, Naton B, Prehn C, Puk O, Rácz I, Räss M, Rathkolb B, Rozman J, Scheerer M, Schiller E, Schrewe A, Steinkamp R, Stöger C, Sun M, Szymczak W, Treise I, Vargas Panesso IL, Vernaleken AM, Willershäuser M, Wolff-Muscate A, Zeh R, Adamski J, Beckers J, Bekeredjian R, Busch DH, Eickelberg O, Favor J, Graw J, Höfler H, Höschen C, Katus H, Klingenspor M, Klopstock T, Neff F, Ollert M, Schulz H, Stöger T, Wolf E, Wurst W, Yildirim AÖ, Zimmer A, Hrabě de Angelis M. Innovations in phenotyping of mouse models in the German Mouse Clinic. Mamm Genome. 2012; 23:611-622. PMID: 22926221
  • Fuchs H, Gailus-Durner V, Adler T, Aguilar-Pimentel JA, Becker L, Calzada-Wack J, Da Silva-Buttkus P, Neff F, Götz A, Hans W, Hölter SM, Horsch M, Kastenmüller G, Kemter E, Lengger C, Maier H, Matloka M, Möller G, Naton B, Prehn C, Puk O, Rácz I, Rathkolb B, Römisch-Margl W, Rozman J, Wang-Sattler R, Schrewe A, Stöger C, Tost M, Adamski J, Aigner B, Beckers J, Behrendt H, Busch DH, Esposito I, Graw J, Illig T, Ivandic B, Klingenspor M, Klopstock T, Kremmer E, Mempel M, Neschen S, Ollert M, Schulz H, Suhre K, Wolf E, Wurst W, Zimmer A, Hrabě de Angelis M. Mouse phenotyping. Methods. 2011; 53: 120-135 PMID: 20708688
  • Fuchs H, Gailus-Durner V, Adler T, Pimentel JA, Becker L, Bolle I, Brielmeier M, Calzada-Wack J, Dalke C, Ehrhardt N, Fasnacht N, Ferwagner B, Frischmann U, Hans W, Hölter SM, Hölzlwimmer G, Horsch M, Javaheri A, Kallnik M, Kling E, Lengger C, Maier H, Mossbrugger I, Mörth C, Naton B, Nöth U, Pasche B, Prehn C, Przemeck G, Puk O, Racz I, Rathkolb B, Rozman J, Schäble K, Schreiner R, Schrewe A, Sina C, Steinkamp R, Thiele F, Willershäuser M, Zeh R, Adamski J, Busch DH, Beckers J, Behrendt H, Daniel H, Esposito I, Favor J, Graw J, Heldmaier G, Höfler H, Ivandic B, Katus H, Klingenspor M, Klopstock T, Lengeling A, Mempel M, Müller W, Neschen S, Ollert M, Quintanilla-Martinez L, Rosenstiel P, Schmidt J, Schreiber S, Schughart K, Schulz H, Wolf E, Wurst W, Zimmer A, Hrabé de Angelis M. The German Mouse Clinic: a platform for systemic phenotype analysis of mouse models. Curr Pharm Biotechnol. 2009; 10:236-43. PMID: 19199957
  • Gailus-Durner V, Fuchs H, Adler T, Aguilar Pimentel A, Becker L, Bolle I, Calzada-Wack J, Dalke C, Ehrhardt N, Ferwagner B, Hans W, Hölter SM, Hölzlwimmer G, Horsch M, Javaheri A, Kallnik M, Kling E, Lengger C, Mörth C, Mossbrugger I, Naton B, Prehn C, Puk O, Rathkolb B, Rozman J, Schrewe A, Thiele F, Adamski J, Aigner B, Behrendt H, Busch DH, Favor J, Graw J, Heldmaier G, Ivandic B, Katus H, Klingenspor M, Klopstock T, Kremmer E, Ollert M, Quintanilla-Martinez L, Schulz H, Wolf E, Wurst W, de Angelis MH. Systemic first-line phenotyping. Methods Mol Biol. 2009;530: 463-509. PMID: 19266331
  • White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC; Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP. Cell. 2013; 154(2): 452-64. PMID:23870131
  • Wurst W, Hrabé de Angelis M: Systematic phenotyping of mouse mutants. Nat. Biotechnol. 2010; 28, 684-685  PMID: 20622838