Počet záznamů: 1  

The first mouse mutants of D14Abb1e (Fam208a) show that it is critical for early development

  1. 1. 0435131 - UMG-J 2015 RIV US eng J - Článek v odborném periodiku
    Harten, S.K. - Bruxner, T.J. - Bharti, V. - Blewitt, M. - Nguyen, T.M.T. - Whitelaw, E. - Epp, Trevor
    The first mouse mutants of D14Abb1e (Fam208a) show that it is critical for early development.
    Mammalian Genome. Roč. 25, 7-8 (2014), s. 293-303. ISSN 0938-8990
    Institucionální podpora: RVO:68378050
    Klíčová slova: embryogenesis * forward genetics * mouse mutant
    Kód oboru RIV: EB - Genetika a molekulární biologie
    Impakt faktor: 3.068, rok: 2014

    An ENU mutagenesis screen to identify novel epigenetic modifiers was established in mice carrying a multi-copy GFP transgene, which is expressed in a variegated manner in erythrocytes and is highly sensitive to epigenetic silencing. The screen has produced mouse mutants of both known modifiers of epigenetic state, such as Dnmt1 and Smarca5, and novel modifiers, such as Smchd1 and Rlf. Here we report two mouse lines generated from the screen, MommeD6 and MommeD20, with point mutations in D14Abb1e. These are the first mouse mutants of D14Abb1e (also known as Fam208a), a gene about which little is known. Heterozygous intercrosses show that homozygous mutants from both the MommeD6 and MommeD20 lines are not viable beyond gastrulation, demonstrating an important role for D14Abb1e in development. We demonstrate that haploinsufficiency for D14Abb1e effects transgene expression at the RNA level. Analysis of the predicted D14Abb1e protein sequence reveals that it contains putative nuclear localisation signals and a domain of unknown function, DUF3715. Our studies reveal that D14Abb1e is localised to the nucleus and is expressed in skin and testes.
    Trvalý link: http://hdl.handle.net/11104/0239082