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Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't; 3-4
Autor(en):
Diener, Susanne; Bayer, Sieglinde; Sabrautzki, Sibylle; Wieland, Thomas; Mentrup, Birgit; Przemeck, Gerhard K H; Rathkolb, Birgit; Graf, Elisabeth; Hans, Wolfgang; Fuchs, Helmut; Horsch, Marion; Schwarzmayr, Thomas; Wolf, Eckhard; Klopocki, Eva; Jakob, Franz; Strom, Tim M; Hrab? de Angelis, Martin; Lorenz-Depiereux, Bettina
Titel:
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.
Abstract:
We performed exome sequencing for mutation discovery of an ENU (N-ethyl-N-nitrosourea)-derived mouse model characterized by significant elevated plasma alkaline phosphatase (ALP) activities in female and male mutant mice, originally named BAP014 (bone screen alkaline phosphatase #14). We identified a novel loss-of-function mutation within the Fam46a (family with sequence similarity 46, member A) gene (NM_001160378.1:c.469G>T, NP_001153850.1:p.Glu157*). Heterozygous mice of this mouse line (renam...     »
Zeitschriftentitel:
Mamm Genome
Jahr:
2016
Band / Volume:
27
Heft / Issue:
3-4
Seitenangaben Beitrag:
111-21
Sprache:
eng
Volltext / DOI:
doi:10.1007/s00335-016-9619-x
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/26803617
Print-ISSN:
0938-8990
TUM Einrichtung:
II. Medizinische Klinik und Poliklinik (Gastroenterologie); Institut für Humangenetik
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