- abnormal vertebrae morphology / IMPC
- abnormal rib morphology / IMPC
- decreased circulating LDL cholesterol level / IMPC
- decreased circulating HDL cholesterol level / IMPC
- decreased hematocrit / IMPC
- decreased leukocyte cell number / IMPC
- increased granulocyte number / IMPC
- abnormal coat/ hair morphology / IMPC
- abnormal cranium morphology / IMPC
- abnormal hindlimb morphology / IMPC
- abnormal autopod morphology / IMPC
- kinked tail / IMPC
- short tail / IMPC
- tremors / IMPC
- abnormal body length / IMPC
- decreased body length / IMPC
- decreased body weight / IMPC
- hyperactivity / IMPC
- decreased locomotor activity / IMPC
- abnormal gait / IMPC
- abnormal response to new environment / IMPC
- abnormal startle reflex / IMPC
- trunk curl / IMPC
- abnormal vocalization / IMPC
- decreased caudal vertebrae number / IMPC
- increased circulating phosphate level / IMPC
- abnormal urination / IMPC
- increased thermal nociceptive threshold / IMPC
- abnormal coat/hair pigmentation / IMPC
- abnormal tail morphology / IMPC
- decreased IgE level / IMPC
- increased mean corpuscular volume / IMPC
- decreased circulating triglyceride level / IMPC
- decreased hemoglobin content / IMPC
- decreased erythrocyte cell number / IMPC
- abnormal bone mineralization / IMPC
- increased circulating alanine transaminase level / IMPC
- increased lactate dehydrogenase level / IMPC
- increased circulating alkaline phosphatase level / IMPC
- increased circulating chloride level / IMPC
- curly tail / IMPC
- increased lean body mass / IMPC
- decreased lean body mass / IMPC
- abnormal pelvic girdle bone morphology / IMPC
- abnormal vertebral arch morphology / IMPC
- vertebral fusion / IMPC
- decreased sacral vertebrae number / IMPC
- abnormal behavior / IMPC
- increased T cell number / IMPC
- decreased B cell number / IMPC
- abnormal retina pigmentation / IMPC
- decreased circulating cholesterol level / IMPC
- narrow eye opening / IMPC
- decreased circulating serum albumin level / IMPC
- thrombocytosis / IMPC
- increased hemoglobin content / IMPC
- decreased circulating total protein level / IMPC
- increased mean corpuscular hemoglobin concentration / IMPC
- increased CD4-positive, alpha-beta T cell number / IMPC
- decreased mature B cell number / IMPC
- increased IgG2b level / IMPC
- increased IgG3 level / IMPC
- decreased circulating amylase level / IMPC
- increased total body fat amount / IMPC
- increased bone mineral content / IMPC
- preweaning lethality, incomplete penetrance / IMPC
B6Dnk;B6Brd;B6N-Tyrc-Brd Mysm1tm1a(KOMP)Wtsi/Wtsi
Status | Available to order |
EMMA ID | EM:12102 |
International strain name | B6Dnk;B6Brd;B6N-Tyrc-Brd Mysm1tm1a(KOMP)Wtsi/Wtsi |
Alternative name | EPD0019_1_A05 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Mysm1tm1a(KOMP)Wtsi |
Gene/Transgene symbol | Mysm1 |
Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
|
Information from provider
Provider | Wellcome Trust Sanger Institute |
Provider affiliation | Wellcome Trust Sanger Institute |
Genetic information | This mouse line originates from KOMP ES clone EPD0019_1_A05. For further details on the construction of this clone see the page at the IMPC portal. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References |
|
Information from EMMA
Archiving centre | Wellcome Trust Sanger Institute, Hinxton, United Kingdom |
Animals used for archiving | heterozygous C57BL/6Dnk;C57BL/6N |
Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome / Orphanet_508542
IMPC phenotypes (allele matching)
IMPC phenotypes (gene matching)
- increased total body fat amount / IMPC
- abnormal rib morphology / IMPC
- abnormal behavior / IMPC
- decreased leukocyte cell number / IMPC
- decreased locomotor activity / IMPC
- increased lactate dehydrogenase level / IMPC
- abnormal tail morphology / IMPC
- increased circulating phosphate level / IMPC
- decreased lean body mass / IMPC
- increased circulating alkaline phosphatase level / IMPC
- abnormal hindlimb morphology / IMPC
- decreased circulating cholesterol level / IMPC
- abnormal vertebrae morphology / IMPC
- decreased body weight / IMPC
- decreased circulating triglyceride level / IMPC
- abnormal urination / IMPC
- decreased erythrocyte cell number / IMPC
- decreased hematocrit / IMPC
- increased hemoglobin content / IMPC
- abnormal gait / IMPC
- abnormal coat/ hair morphology / IMPC
- hyperactivity / IMPC
- abnormal response to new environment / IMPC
- increased mean corpuscular hemoglobin concentration / IMPC
- decreased body length / IMPC
- preweaning lethality, incomplete penetrance / IMPC
- increased lean body mass / IMPC
- abnormal body length / IMPC
- decreased IgE level / IMPC
- kinked tail / IMPC
- decreased sacral vertebrae number / IMPC
- increased mean corpuscular volume / IMPC
- decreased B cell number / IMPC
- decreased circulating serum albumin level / IMPC
- abnormal pelvic girdle bone morphology / IMPC
- increased circulating chloride level / IMPC
- decreased caudal vertebrae number / IMPC
- decreased hemoglobin content / IMPC
- thrombocytosis / IMPC
- abnormal cranium morphology / IMPC
- abnormal startle reflex / IMPC
- abnormal coat/hair pigmentation / IMPC
- increased bone mineral content / IMPC
- tremors / IMPC
- increased CD4-positive, alpha-beta T cell number / IMPC
- curly tail / IMPC
- abnormal vertebral arch morphology / IMPC
- short tail / IMPC
- abnormal bone mineralization / IMPC
- abnormal autopod morphology / IMPC
- vertebral fusion / IMPC
- decreased circulating LDL cholesterol level / IMPC
- decreased circulating total protein level / IMPC
- abnormal retina pigmentation / IMPC
- increased T cell number / IMPC
- increased granulocyte number / IMPC
- increased circulating alanine transaminase level / IMPC
- narrow eye opening / IMPC
- decreased mature B cell number / IMPC
- increased thermal nociceptive threshold / IMPC
- decreased circulating amylase level / IMPC
- decreased circulating HDL cholesterol level / IMPC
- trunk curl / IMPC
- increased IgG2b level / IMPC
- increased IgG3 level / IMPC
- abnormal vocalization / IMPC
Literature references
- Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.;Liakath-Ali Kifayathullah, Vancollie Valerie E, Heath Emma, Smedley Damian P, Estabel Jeanne, Sunter David, Ditommaso Tia, White Jacqueline K, Ramirez-Solis Ramiro, Smyth Ian, Steel Karen P, Watt Fiona M, ;2014;Nature communications;5;3540; 24721909
- Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.;DiTommaso Tia, Jones Lynelle K, Cottle Denny L, null null, Gerdin Anna-Karin, Vancollie Valerie E, Watt Fiona M, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, Sundberg John P, White Jacqueline K, Smyth Ian M, ;2014;PLoS genetics;10;e1004705; 25340873
- Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.;de Angelis Martin Hrabě, Nicholson George, Selloum Mohammed, White Jacqui, Morgan Hugh, Ramirez-Solis Ramiro, Sorg Tania, Wells Sara, Fuchs Helmut, Fray Martin, Adams David J, Adams Niels C, Adler Thure, Aguilar-Pimentel Antonio, Ali-Hadji Dalila, Amann Gregory, André Philippe, Atkins Sarah, Auburtin Aurelie, Ayadi Abdel, Becker Julien, Becker Lore, Bedu Elodie, Bekeredjian Raffi, Birling Marie-Christine, Blake Andrew, Bottomley Joanna, Bowl Mike, Brault Véronique, Busch Dirk H, Bussell James N, Calzada-Wack Julia, Cater Heather, Champy Marie-France, Charles Philippe, Chevalier Claire, Chiani Francesco, Codner Gemma F, Combe Roy, Cox Roger, Dalloneau Emilie, Dierich André, Di Fenza Armida, Doe Brendan, Duchon Arnaud, Eickelberg Oliver, Esapa Chris T, El Fertak Lahcen, Feigel Tanja, Emelyanova Irina, Estabel Jeanne, Favor Jack, Flenniken Ann, Gambadoro Alessia, Garrett Lilian, Gates Hilary, Gerdin Anna-Karin, Gkoutos George, Greenaway Simon, Glasl Lisa, Goetz Patrice, Da Cruz Isabelle Goncalves, Götz Alexander, Graw Jochen, Guimond Alain, Hans Wolfgang, Hicks Geoff, Hölter Sabine M, Höfler Heinz, Hancock John M, Hoehndorf Robert, Hough Tertius, Houghton Richard, Hurt Anja, Ivandic Boris, Jacobs Hughes, Jacquot Sylvie, Jones Nora, Karp Natasha A, Katus Hugo A, Kitchen Sharon, Klein-Rodewald Tanja, Klingenspor Martin, Klopstock Thomas, Lalanne Valerie, Leblanc Sophie, Lengger Christoph, le Marchand Elise, Ludwig Tonia, Lux Aline, McKerlie Colin, Maier Holger, Mandel Jean-Louis, Marschall Susan, Mark Manuel, Melvin David G, Meziane Hamid, Micklich Kateryna, Mittelhauser Christophe, Monassier Laurent, Moulaert David, Muller Stéphanie, Naton Beatrix, Neff Frauke, Nolan Patrick M, Nutter Lauryl Mj, Ollert Markus, Pavlovic Guillaume, Pellegata Natalia S, Peter Emilie, Petit-Demoulière Benoit, Pickard Amanda, Podrini Christine, Potter Paul, Pouilly Laurent, Puk Oliver, Richardson David, Rousseau Stephane, Quintanilla-Fend Leticia, Quwailid Mohamed M, Racz Ildiko, Rathkolb Birgit, Riet Fabrice, Rossant Janet, Roux Michel, Rozman Jan, Ryder Ed, Salisbury Jennifer, Santos Luis, Schäble Karl-Heinz, Schiller Evelyn, Schrewe Anja, Schulz Holger, Steinkamp Ralf, Simon Michelle, Stewart Michelle, Stöger Claudia, Stöger Tobias, Sun Minxuan, Sunter David, Teboul Lydia, Tilly Isabelle, Tocchini-Valentini Glauco P, Tost Monica, Treise Irina, Vasseur Laurent, Velot Emilie, Vogt-Weisenhorn Daniela, Wagner Christelle, Walling Alison, Weber Bruno, Wendling Olivia, Westerberg Henrik, Willershäuser Monja, Wolf Eckhard, Wolter Anne, Wood Joe, Wurst Wolfgang, Yildirim Ali Önder, Zeh Ramona, Zimmer Andreas, Zimprich Annemarie, null null, Holmes Chris, Steel Karen P, Herault Yann, Gailus-Durner Valérie, Mallon Ann-Marie, Brown Steve Dm, ;2015;Nature genetics;47;969-978; 26214591
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