B6Dnk;B6Brd;B6N-Tyrc-Brd Mysm1tm1a(KOMP)Wtsi/Wtsi

Status

Available to order

EMMA IDEM:12102
International strain nameB6Dnk;B6Brd;B6N-Tyrc-Brd Mysm1tm1a(KOMP)Wtsi/Wtsi
Alternative nameEPD0019_1_A05
Strain typeTargeted Mutant Strains
Allele/Transgene symbolMysm1tm1a(KOMP)Wtsi
Gene/Transgene symbolMysm1
DisclaimerPlease note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
  1. We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted.
  2. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure.
  3. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA.
  4. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider Wellcome Trust Sanger Institute
Provider affiliationWellcome Trust Sanger Institute
Genetic informationThis 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 informationPotential phenotyping data in the IMPC portal
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

Information from EMMA

Archiving centreWellcome Trust Sanger Institute, Hinxton, United Kingdom
Animals used for archivingheterozygous C57BL/6Dnk;C57BL/6N
Stage of embryos2-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)
  • 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
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
MGI phenotypes (allele matching)
  • belly spot / MGI
  • abnormal hair follicle morphology / MGI
  • distorted hair follicle pattern / MGI
  • abnormal hair cycle / MGI
  • kinked tail / MGI
  • abnormal epidermal layer morphology / MGI
  • abnormal tail morphology / MGI
  • decreased tail pigmentation / MGI
MGI phenotypes (gene matching)
  • belly spot / MGI
  • abnormal hair follicle morphology / MGI
  • distorted hair follicle pattern / MGI
  • abnormal hair cycle / MGI
  • kinked tail / MGI
  • abnormal epidermal layer morphology / MGI
  • abnormal tail morphology / MGI
  • decreased tail pigmentation / MGI

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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    Example health report
    (Current health report will be provided later)

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    Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

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