Understanding Human Disease Through Mouse Genetics

EUMORPHIA Related Publications

WP1: Animal handling and housing

Argmann , C.A. , Auwerx, J. Minimizing Variation Due to Genotype and Environment. In Current Protocols in Molecular Biology . Eds. Assubel, F., Brent, R., Kingston , R.E., Moore , D.M., Seidman, J.G., Smith, J.A., Struhl, K. John Wiley & Sons, 2006, pg. 29A.2.1-29A2.3

Argmann , C.A. , Chambon, P. and Auwerx J. ( 2005) Mouse phenogenomics: the fast track to ‘systems' metabolism. Cell Metabolism 2, 349-360.

Argmann , C.A. , Dierich, A. and Auwerx, J. General considerations in mouse phenotyping. In Current Protocols in Molecular Biology . Eds. Assubel, F., Brent, R., Kingston , R.E., Moore , D.M., Seidman, J.G., Smith, J.A., Struhl, K. John Wiley & Sons, 2006, pg. 29A.1.1-29A2.2

Champy, M.-F., Selloum, M., Piard, L., Zeitler, V., Caradec, C., Chambon, P. and Auwerx, J. (2004) Mouse functional genomics requires standardization of mouse handling and housing conditions. Mammalian Genome 15, 768-783.

 

WP2: First-line phenotyping

Standards of Mouse Model Phenotyping. Eds. Hrabé de Angelis, M., Chambon, P., Brown, S. (2006) Wiley-VCH, Weinheim, (ISBN 3-527-31031-2)

Brown, S.D.M., Chambon, P., Hrabe de Angelis, M. and The EUMORPHIA Consortium (2005). EMPReSS: standardized phenotype screens for functional annotation of the mouse genome. Nature Genetics , 37: 1155

Brown, S.D.M., Hancock, J.M. and Gates, H. (2006) Understanding mammalian genetic systems: the challenge of phenotyping in the mouse. PLoS Genetics , 2(8), 1131-1137

Brown, S.D.M., Lad, H., Green, E., Gkoutos, G., Gates, H., Hrabé de Angelis, M. and The EUMORPHIA consortium. EUMORPHA and the European Mouse Phenotyping Resource for Standardised Screens (EMPReSS). In Standards of Mouse Model Phenotyping . Eds. Hrabé de Angelis, M., Chambon, P., Brown, S. (2006) Wiley-VCH, Weinheim, pp309-317

Gailus-Durner V., Fuchs, H., Becker, L., Bolle, I., Bielmeier, M., Calzada-Wack, J., Elvert, R., Erhardt, N., Dalke, C., Franz, T.J., Grundner-Culemann, E., Hammelbacher, S., Hölter, S., Hölzlwimmer, G., Horsch, M., Javaheri, A., Kalaydjiev, S., Klempt, M., Kling, E., Kunder, S., Lengger, C., Lisse, T., Mijalski, T., Naton, B., Pedersen, V., Prehn, C., Przemeck, G., Racz, I., Reinhard, C., Reitmeir, P., Schneider, I., Schrewe, A., Steinkamp, R., Zybill, C., Adamski, J., Beckers, J., Behrendt, H., Favor, J., Graw, J., Heldmaier, G., Höfler, H., Ivandic, B., Katus, H., Kirchhof. P., Klingenspor, M., Klopstock, T., Lengeling, A., Müller, W., Ohl, F., Ollert, M., Quintanilla-Martinez, L., Schmidt, J., Schulz, H., Wolf, E., Wurst, W., Zimmer, A., Busch, D.H., and Hrabé de Angelis, M. (2005): Introducing the German Mouse Clinic: Open access platform for standardized phenotyping. Nat Methods 2(6), 403-404

 

WP3: Biochemistry and haematology

Klempt, M., Rathkolb, B., Aigner, B. and Wolf, E. Clinical Chemistry Screen. In Standards of Mouse Model Phenotyping . Eds. Hrabé de Angelis, M., Chambon, P., Brown, S. (2006) Wiley-VCH, Weinheim, pp87-105

 

WP4: Hormonal and metabolic

Argmann , C.A. , Champy, M.F. and Auwerx, J. Metabolic exploration of the mouse. In Current Protocols in Molecular Biology . Eds. Assubel, F., Brent, R., Kingston , R.E., Moore , D.M., Seidman, J.G., Smith, J.A., Struhl, K. John Wiley & Sons, 2006, pg. 29B.1.1-29B1.11.

Bedu, E., Wahli, W. and Desvergne, B. (2005) Peroxisome proliferator-activated receptor beta/delta as a therapeutic target for metabolic diseases. Expert Opinion on Therapeutic Targets , 9(4), 861-873.

Champy, M.F., Argmann, C, Chambon, P. and Auwerx, J. Exploration of Metabolic and Endocrine Function in the Mouse. In Standards of Mouse Model Phenotyping . Eds. Hrabé de Angelis, M., Chambon, P., Brown, S. (2006) Wiley-VCH, Weinheim, pp109-132

Desvergne, B., Michalik, L. and Wahli W. (2006) Transcriptional regulation of metabolism. Physiol. Rev ., 86(2), 465-514.

Klempt, M., Rathkolb, B., Fuchs, E., Hrabé de Angelis M., Wolf, E. and Aigner, B. (2006) Genotype-specific environmental impact on the variance of blood values in inbred and F1 hybrid mice. Mamm Genome 17, 93-102

 

WP5: Cardiovascular

Monassier, L. and Constantinesco, A. Cardiovascular Disorders: Insights into In Vivo Cardiovascular Phenotyping. In Standards of Mouse Model Phenotyping . Eds. Hrabé de Angelis, M., Chambon, P., Brown, S. (2006) Wiley-VCH, Weinheim, pp177-194

Monassier, L. et al. (2004) Current mouse models for studying cardiac dysfunctions: technical and imaging aspects. Drug Discovery Today , 1(3)

 

WP6: Allergy and infectious diseases

Böse, J., Gruber, A.D., Helming, L., Schiebe, S., Wegener, I. , Hafner, M., Beales, M., Köntgen, F. and Lengeling, A. (2004) The phosphatidylserine receptor has essential functions during embryogenesis but not in apoptotic cell removal. J. Biol. 3: 15.1-15.18.

Frischmann, U. and Müller, W. (2005) Nine fluorescence parameter analysis on a four-color fluorescence activated flow cytometer. Cytometry , 69, 124-126.

Lengeling, A., Müller, W. and Balling, R. (2005) Phenotyping of Host-pathogen Interactions in Mice. In Standards of Mouse Model Phenotyping . Eds. Hrabé de Angelis, M., Chambon, P., Brown, S. (2006) Wiley-VCH, Weinheim, pp201-215

Pasche, B., Kalaydjiev, S., Franz, T., Kremmer, E., Gailus-Durner, V., Fuchs, H., Hrabé de Angelis, M., Lengeling, A. and Busch, D.H. (2005) Sex-Dependent Susceptibility to Listeria monocytogenes Infection Is Mediated by Differential Interleukin-10 Production. Infect Immun 73(9), 5952-5960

Schneider, J.E., Böse, J., Bamforth, S.D., Gruber, A.D., Broadbent, C., Clarke, K., Neubauer, S., Lengeling, A. and Bhattacharya, S. (2004) Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique. BMC Developmental Biology 4 : 16.1-16.12.

 

WP8: Sensory

Besson, V., Nalesso, V., Herpin, A., Bizot, J.C., Messaddeq, N., Romand, R., Puech, A., Blanquet, V., and Herault, Y. (2005) Training and aging modulate the loss-of-balance phenotype observed in a new ENU-induced allele of Otopetrin1. Biol Cell. Oct; 97(10):787-98

Dalke, C., Puk, O., Neuha ü ser-Klaus, A., Favor, J. and Graw, J. Eye Disorders. In Standards of Mouse Model Phenotyping . Eds. Hrabé de Angelis, M., Chambon, P., Brown, S. (2006) Wiley-VCH, Weinheim, pp283-304

Hart, A.W., McKie, L., Morgan, J.E., Gautie, P., West, K., Jackson , I.J. and Cross, S.H. (2005 ) Genotype-phenotype correlation for mouse Pde6b mutations. Invest Ophth Vis Sci 46: 3443-3450.

Jellali, A., Meziane, H., Ouagazzal, A.-M., Rousseau, S., Romand, R., Auwerx, J., Sahel , J., Chambon, P. and Picaud, S. (2005) The optomotor response: A robust first-line visual screening method for mice. Vision Research , 45:1439-1446.

 

WP9: Central/Peripheral Nervous & skeletal muscle systems

Schneider, I. , Tirsch, WS., Faus-Keßler T., Becker L., Kling E., Austin Busse R., Bender A., Feddersen B., Tritschler J., Fuchs H., Gailus-Durner V. and Englmeier K-H., Systematic, standardized and comprehensive neurological phenotyping of inbred mice strains in the German Mouse Clinic. (2006) Journal of Neuroscience Methods in press

Tucci, V., Blanco, G., Nolan, P.M. Behavioural and Neurological Phneotyping in the Mouse. In Standards of Mouse Model Phenotyping . Eds. Hrabé de Angelis, M., Chambon, P., Brown, S. (2006) Wiley-VCH, Weinheim, pp135-170

 

WP10: Behaviour & cognition

Hölter, S.M. , Kallnik, M., Wurst, W., Marsicano, G., Lutz, B. and Wotjak, C.T. (2005) Cannabinoid CB 1 receptor is dispensable for memory extinction in an appetitively-motivated learning task. Eur J Pharmacol 510:69-74

Hölter, S.M., Meziane, H., Mandillo, S., Nolan, P., Ouagazzal, A., Kallnik, M., Al Banchaabouchi, M., Coghill, E.L., Golini, E., Jacquot, S., Krezel, W., Lad, H., Parker, A., Riet, F., Schneider, I., Tucci, V., Marazziti, D., Auwerx, J., Brown, S., Chambon, P., Rosenthal, N., Tocchini-Valentini, G. and Wurst, W. Reproducibility in mouse behavioural phenotyping: lessons from Eumorphia . Genes Brain Behav (in preparation)

Kallnik, M., Elvert, R., Ehrhardt, N, Kissling, D., Mahabir, E., Welzl, G., Faus-Kessler, T., Wurst, W., Schmidt, J. and Hölter, S.M. IVC housing modulates emotional and cognitive behaviour and metabolism in male C3HeB/FeJ and C57BL/6J mice. Mamm Genome (in preparation)

Marazziti, D., Golini, E., Mandillo, S., Magrelli, A., Witke, W., Matteoni, R. and Tocchini-Valentini, G. (2004) Altered dopamine signalling and MPTP resistance in mice lacking the Parkinson's disease-associated GPR37/parkin-associated endothelin-like receptor. Proc. Natl. Acad. Sci . USA 101 (27): 10189-10194.

Meziane, H., Ouagazzal, A.-M., Aubert, L., Wietrzych, M. and Krezel, W. (2006) Estrous cycle effects on behavior of C57BL/6J and BALB/cByJ female mice: implications for phenotyping strategies. Genes, Brain and Behavior, In press.

Tucci, V., Hardy, A. and Nolan, P.M. (2006) A comparison of physiological and behavioural parameters in C57BL/6J mice undergoing food or water restriction regimes. Behav Brain Res . 173: 22-29.

Tucci V., Lad H.V., Parker A., Polley S., Brown S.D.M. and Nolan P.M. (2006). Gene/environment interactions differentially affect mouse strain behavioural parameters. Mammalian Genome. In press.

 

WP11: Cancer

Michalik, L. and Wahli, W. (2006), Involvement of PPAR nuclear receptors in tissue injury and wound repair. Journal of Clinical Investigation , 116(3), 598-606.

 

WP12: Bone and Cartilage

Fuchs, H., Lisse, T., Abe, K. and Hrabé de Angelis, M. Screening for bone and cartilage phenotypes in mice. In Standards of Mouse Model Phenotyping . Eds. Hrabé de Angelis, M., Chambon, P., Brown, S. (2006) Wiley-VCH, Weinheim, pp35-85

Koichiro, A., Fuchs, H., Lisse, T., Hans, W. and Hrabé de Angelis, M. (2006) New ENU induced semidominant mutation, Ali18, causes inflammatory arthritis, dermatitis, and osteoporosis in the mouse. Mamm Genome , 17(9):915-922

 

WP13: Gene expression

Deidda, G., Rossi, N. and Tocchini-Valentini, G.P. An archaeal endoribonuclease catalyzes cis- and trans- nonspliceosomal splicing in mouse cells (2003) Nat Biotechno l. Dec;21(12):1499-504.

Di Segni, G., Borghese, L., Sebastiani, S., Tocchini-Valentini, G.P. (2005) A pre-tRNA carrying intron features typical of Archaea is spliced in yeast. RNA . Jan;11(1):70-6.

Tocchini-Valentini, G.D., Fruscoloni, P., Tocchini-Valentini, G.P. (2005) Structure, function, and evolution of the tRNA endonucleases of Archaea: an example of subfunctionalization. Proc Natl Acad Sci U S A . Jun 21;102(25):8933-8.

Tocchini-Valentini, G.D., Fruscoloni, P., Tocchini-Valentini. G.P. (2005) Coevolution of tRNA intron motifs and tRNA endonuclease architecture in Archaea. Proc Natl Acad Sci U S A . Oct 12; Sci U S A . Oct 25;102(43):15418-22.

 

WP15: Pathology

Teletin. M., Antal, C., Wendling, O., Heikkinen, S., Dgheem, M., Khetchoumian, K., Argmann , C.A. , Auwerx, J., and Mark, M. Histopathology in mouse metabolic studies. In Current Protocols in Molecular Biology . Eds. Assubel, F., Brent, R., Kingston , R.E., Moore , D.M., Seidman, J.G., Smith, J.A., Struhl, K. John Wiley & Sons, 2006, in press

 

WP16: Mutagenesis

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., Hrabé de Angelis, M., Jackson, J., 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, A.F., Thornton, J., Tocchini-Valentini, G., Wagner, E., Wahli. W. and Wurst, W. (2004) The European dimension for the mouse genome mutagenesis programme. Nature Genetics 36, 925-927

Klaften, M. and Hrabé de Angelis, M. (2005) ARTS: A web-based tool for the setup of high-throughput genome wide mapping panels for the SNP genotyping of mouse mutants. Nucleic Acids Res 33, W496-W500

Mauger, F., Jaunay, O., Chamblain, V., Reichert, F., Bauer, K., Gut, I.G. and Gelfand, D.H. (2006) SNP genotyping using alkali cleavage of RNA/DNA chimeras and MALDI time-of-flight mass spectrometry. Nucleic Acids Res 34(3): e18.

 

WP17: Informatics

Gkoutos, G.V., Green, E.C.J., Greenaway, S., Blake, A., Mallon, A.-M. and Hancock, J.M. (2005) CRAVE: A database, middleware and visualisation system for phenotype ontologies. Bioinformatics 21(7): 1257-1262.

Gkoutos, G.V., Green, E.C.J., Mallon, A.M., Hancock, J.M. and Davidson, D. (2004) Building mouse phenotype ontologies . Pac. Symp. Biocomputing 9: 178-189.

Gkoutos, G.V., Green, E.C.J., Mallon, A.-M., Hancock, J.M. and Davidson, D. (2004) Using ontologies to describe mouse phenotypes. Genome Biol. 6: R8. (Reprinted in Genome Biology special edition on “Ontology Research”, June 2005.)

Gkoutos, G.V., Green, E.C.J., Mallon, A.-M., Hancock, J.M. and Davidson, D. (2004) Ontologies for the description of mouse phenotypes. Comp. Funct. Genomics 5 (6-7): 545-551 .

Green, E.C.J., Gkoutos, G.V., Lad, H., Blake, A., Weekes, J. and Hancock, J.M. (2005) EMPReSS: European Mouse Phenotyping Resource for Standardised Screens. Bioinformatics 21 (12): 2930-2931.