B6N.B6J-mt-Atp8^FVB/NJ/IbraH

Status	Available to order
EMMA ID	EM:14675
Citation information	RRID:IMSR_EM:14675 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	B6N.B6J-mt-Atp8^FVB/NJ/IbraH
Alternative name	C57BL/6N.B6J-Atp8mtFVB/NJ/IbraH
Strain type	Spontaneous
Allele/Transgene symbol	mt-Atp8^m1
Gene/Transgene symbol	mt-Atp8

Information from provider

Provider	Hirose Misa
Provider affiliation	University of Luebeck
Genetic information	A conplastic mouse strain carrying a single mutation in the mitochondrially encoded ATP8 synthase gene (mt-Atp8; m.7778G>T) with C57BL/6N nuclear genome background. The mutation is homoplasmic.
Phenotypic information	Homozygous: Unknown Heterozygous: Increased sensitivity to a panel of age-related chronic inflammatory conditions including arthritis, non-alchoholic steatohepatitis and atherosclerosis.
Breeding history	Female progeny need to be crossed with male C57BL/6N. Original mutation arose in FVB/NJ mice. The mutation was then backcrossed 27 times to C57BL/6J. This cross was subsequently backcrossed 5 times to C57BL/6N.
References	Dissecting the effects of mtDNA variations on complex traits using mouse conplastic strains.;Yu Xinhua, Gimsa Ulrike, Wester-Rosenlöf Lena, Kanitz Ellen, Otten Winfried, Kunz Manfred, Ibrahim Saleh M, ;2009;Genome research;19;159-65; 19037013 The mtDNA nt7778 G/T polymorphism affects autoimmune diseases and reproductive performance in the mouse.;Yu Xinhua, Wester-Rosenlöf Lena, Gimsa Ulrike, Holzhueter Stephanie-Anna, Marques Andreia, Jonas Ludwig, Hagenow Kristin, Kunz Manfred, Nizze Horst, Tiedge Markus, Holmdahl Rikard, Ibrahim Saleh M, ;2009;Human molecular genetics;18;4689-98; 19759059 The mitochondrial Atp8 mutation induces mitochondrial ROS generation, secretory dysfunction, and β-cell mass adaptation in conplastic B6-mtFVB mice.;Weiss Heike, Wester-Rosenloef Lena, Koch Christiane, Koch Franziska, Baltrusch Simone, Tiedge Markus, Ibrahim Saleh, ;2012;Endocrinology;153;4666-76; 22919063 The mtDNA nt7778 G/T polymorphism augments formation of lymphocytic foci but does not aggravate cerulein-induced acute pancreatitis in mice.;Müller Sarah, Krüger Burkhard, Lange Falko, Bock Cristin N, Nizze Horst, Glass Änne, Ibrahim Saleh M, Jaster Robert, ;2014;PloS one;9;e102266; 25010670 Mitochondrial gene polymorphisms alter hepatic cellular energy metabolism and aggravate diet-induced non-alcoholic steatohepatitis.;Schröder Torsten, Kucharczyk David, Bär Florian, Pagel René, Derer Stefanie, Jendrek Sebastian Torben, Sünderhauf Annika, Brethack Ann-Kathrin, Hirose Misa, Möller Steffen, Künstner Axel, Bischof Julia, Weyers Imke, Heeren Jörg, Koczan Dirk, Schmid Sebastian Michael, Divanovic Senad, Giles Daniel Aaron, Adamski Jerzy, Fellermann Klaus, Lehnert Hendrik, Köhl Jörg, Ibrahim Saleh, Sina Christian, ;2016;Molecular metabolism;5;283-295; 27069868 Behavior and stress reactivity in mouse strains with mitochondrial DNA variations.;Gimsa Ulrike, Kanitz Ellen, Otten Winfried, Ibrahim Saleh M, ;2009;Annals of the New York Academy of Sciences;1153;131-8; 19236336 Mutation of mitochondrial ATP8 gene improves hepatic energy status in a murine model of acute endotoxemic liver failure.;Eipel Christian, Hildebrandt Anke, Scholz Birte, Schyschka Lilianna, Minor Thomas, Kreikemeyer Bernd, Ibrahim Saleh M, Vollmar Brigitte, ;2011;Life sciences;88;343-9; 21167184
Homozygous fertile	unknown
Homozygous viable	unknown
Homozygous matings required	no
Immunocompromised	unknown

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Periodic paralysis with later-onset distal motor neuropathy / Orphanet_397750
Isolated ATP synthase deficiency / Orphanet_254913

Literature references

Dissecting the effects of mtDNA variations on complex traits using mouse conplastic strains.;Yu Xinhua, Gimsa Ulrike, Wester-Rosenlöf Lena, Kanitz Ellen, Otten Winfried, Kunz Manfred, Ibrahim Saleh M, ;2009;Genome research;19;159-65; 19037013
The mtDNA nt7778 G/T polymorphism affects autoimmune diseases and reproductive performance in the mouse.;Yu Xinhua, Wester-Rosenlöf Lena, Gimsa Ulrike, Holzhueter Stephanie-Anna, Marques Andreia, Jonas Ludwig, Hagenow Kristin, Kunz Manfred, Nizze Horst, Tiedge Markus, Holmdahl Rikard, Ibrahim Saleh M, ;2009;Human molecular genetics;18;4689-98; 19759059
The mitochondrial Atp8 mutation induces mitochondrial ROS generation, secretory dysfunction, and β-cell mass adaptation in conplastic B6-mtFVB mice.;Weiss Heike, Wester-Rosenloef Lena, Koch Christiane, Koch Franziska, Baltrusch Simone, Tiedge Markus, Ibrahim Saleh, ;2012;Endocrinology;153;4666-76; 22919063
The mtDNA nt7778 G/T polymorphism augments formation of lymphocytic foci but does not aggravate cerulein-induced acute pancreatitis in mice.;Müller Sarah, Krüger Burkhard, Lange Falko, Bock Cristin N, Nizze Horst, Glass Änne, Ibrahim Saleh M, Jaster Robert, ;2014;PloS one;9;e102266; 25010670
Mitochondrial gene polymorphisms alter hepatic cellular energy metabolism and aggravate diet-induced non-alcoholic steatohepatitis.;Schröder Torsten, Kucharczyk David, Bär Florian, Pagel René, Derer Stefanie, Jendrek Sebastian Torben, Sünderhauf Annika, Brethack Ann-Kathrin, Hirose Misa, Möller Steffen, Künstner Axel, Bischof Julia, Weyers Imke, Heeren Jörg, Koczan Dirk, Schmid Sebastian Michael, Divanovic Senad, Giles Daniel Aaron, Adamski Jerzy, Fellermann Klaus, Lehnert Hendrik, Köhl Jörg, Ibrahim Saleh, Sina Christian, ;2016;Molecular metabolism;5;283-295; 27069868
Behavior and stress reactivity in mouse strains with mitochondrial DNA variations.;Gimsa Ulrike, Kanitz Ellen, Otten Winfried, Ibrahim Saleh M, ;2009;Annals of the New York Academy of Sciences;1153;131-8; 19236336
Mutation of mitochondrial ATP8 gene improves hepatic energy status in a murine model of acute endotoxemic liver failure.;Eipel Christian, Hildebrandt Anke, Scholz Birte, Schyschka Lilianna, Minor Thomas, Kreikemeyer Bernd, Ibrahim Saleh M, Vollmar Brigitte, ;2011;Life sciences;88;343-9; 21167184

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B6N.B6J-mt-Atp8FVB/NJ/IbraH