Manteia - Molecule gene

ENSMUSG00000059363

Mus musculus

Features

Gene ID:	ENSMUSG00000059363

Biological name :	Fxn

Synonyms :	Frataxin, mitochondrial Frataxin intermediate form Frataxin mature form / Fxn / O35943

Possible biological names infered from orthology :	frataxin / Q16595

Species:	Mus musculus

Chr. number:	19
Strand:	-1
Band:	B
Gene start:	24261453
Gene end:	24280605

Corresponding Affymetrix probe sets:	10466771 (MoGene1.0st) 1427282_a_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000117047 Ensembl peptide - ENSMUSP00000080081 NCBI entrez gene - 14297 See in Manteia. MGI - MGI:1096879 RefSeq - NM_008044 RefSeq Peptide - NP_032070 swissprot - E9Q2P9 swissprot - O35943 swissprot - Q3TV21 Ensembl - ENSMUSG00000059363

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
fxn	ENSDARG00000074356	Danio rerio
FXN	ENSGALG00000015108	Gallus gallus
FXN	ENSG00000165060	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name

ID

Similarity(%)

No match

Protein motifs (from Interpro)

Interpro ID	Name
IPR002908	Frataxin/CyaY
IPR017789	Frataxin
IPR020895	Frataxin conserved site
IPR036524	Frataxin/CyaY superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0006119	oxidative phosphorylation	IMP
biological_process	GO:0006783	heme biosynthetic process	IEA
biological_process	GO:0006811	ion transport	IEA
biological_process	GO:0006879	cellular iron ion homeostasis	ISO
biological_process	GO:0007005	mitochondrion organization	IMP
biological_process	GO:0007628	adult walking behavior	IMP
biological_process	GO:0008284	positive regulation of cell proliferation	ISO
biological_process	GO:0009060	aerobic respiration	IMP
biological_process	GO:0009792	embryo development ending in birth or egg hatching	IMP
biological_process	GO:0010039	response to iron ion	ISO
biological_process	GO:0010722	regulation of ferrochelatase activity	ISO
biological_process	GO:0016226	iron-sulfur cluster assembly	IEA
biological_process	GO:0016540	protein autoprocessing	ISO
biological_process	GO:0018283	iron incorporation into metallo-sulfur cluster	ISO
biological_process	GO:0019230	proprioception	IMP
biological_process	GO:0030307	positive regulation of cell growth	ISO
biological_process	GO:0034599	cellular response to oxidative stress	IBA
biological_process	GO:0040015	negative regulation of multicellular organism growth	IMP
biological_process	GO:0043066	negative regulation of apoptotic process	ISO
biological_process	GO:0043085	positive regulation of catalytic activity	ISO
biological_process	GO:0046621	negative regulation of organ growth	IMP
biological_process	GO:0051349	positive regulation of lyase activity	ISO
biological_process	GO:0055072	iron ion homeostasis	IEA
biological_process	GO:0055114	oxidation-reduction process	IEA
biological_process	GO:0070301	cellular response to hydrogen peroxide	ISO
biological_process	GO:0090201	negative regulation of release of cytochrome c from mitochondria	ISO
biological_process	GO:1904231	positive regulation of succinate dehydrogenase activity	ISO
biological_process	GO:1904234	positive regulation of aconitate hydratase activity	ISO
cellular_component	GO:0005737	cytoplasm	IEA
cellular_component	GO:0005739	mitochondrion	ISO
cellular_component	GO:0005829	cytosol	IEA
molecular_function	GO:0004322	ferroxidase activity	ISO
molecular_function	GO:0008198	ferrous iron binding	ISO
molecular_function	GO:0008199	ferric iron binding	IEA
molecular_function	GO:0016491	oxidoreductase activity	IEA
molecular_function	GO:0034986	iron chaperone activity	ISO
molecular_function	GO:0046872	metal ion binding	IEA
molecular_function	GO:0051536	iron-sulfur cluster binding	ISO
molecular_function	GO:0051537	2 iron, 2 sulfur cluster binding	ISO

Pathways (from Reactome)

Pathway description

Mitochondrial protein import

Mitochondrial iron-sulfur cluster biogenesis

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000278	abnormal myocardial fiber morphology	"malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob} Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG8Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0000961	abnormal dorsal root ganglia morphology	"malformed group of nerve cell bodies of each segmental nerve projecting from the spinal cord " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:60159]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG8Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG22Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0001258	decreased body length	"decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]	Show Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0001260	increased body weight	"greater than normal average weight " [J:33400]	Show Allelic Composition: Bdkrb1^tm2Bdr/Bdkrb1^tm2Bdr,Bdkrb2^tm1Jfh/Bdkrb2^tm1Jfh Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG22Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0001263	weight loss	"progressive reduction of body weight below normal average for age" [J:45400]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob} Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0001393	ataxia	"inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]	Show Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0001402	hypoactivity	"reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]	Show Allelic Composition: Bdkrb1^tm2Bdr/Bdkrb1^tm2Bdr,Bdkrb2^tm1Jfh/Bdkrb2^tm1Jfh Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG22Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0001405	impaired coordination	"reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Bdkrb1^tm2Bdr/Bdkrb1^tm2Bdr,Bdkrb2^tm1Jfh/Bdkrb2^tm1Jfh Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG22Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0001406	abnormal gait	"unusual or distinctive way of walking" [J:65038]	Show Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0001505	hunched posture	"stooped low with the limbs pulled in close to the body and arched back" [J:67231, J:30404]	Show Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0001516	abnormal motor coordination/ balance	"altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0001625	cardiac hypertrophy	"an increase in size of the cardiac tissue, not due to increased cell number " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob} Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0001697	abnormal embryo size	"anomalous proportions of embryo compared to littermates" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]	Show Allelic Composition: Dolk^em1(IMPC)J/Dolk^em1(IMPC)J Genetic Background: C57BL/6NJ-Dolk^em1(IMPC)J/J
MP:0001698	reduced embryo size	"smaller proportions of embryo compared to littermates" [J:61790]	Show Allelic Composition: Apoe^tm1Unc/Apoe^tm1Unc,Msr1^tm1Csk/Msr1^tm1Csk Genetic Background: either: (involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6J * ICR) or (involves: 129P2/OlaHsd * 129X1/SvJ * 129/Sv * ICR)
MP:0001730	embryonic growth arrest	"the cessation of development beyond a particular stage" [J:17509]	Show Allelic Composition: Apoe^tm1Unc/Apoe^tm1Unc,Msr1^tm1Csk/Msr1^tm1Csk Genetic Background: either: (involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6J * ICR) or (involves: 129P2/OlaHsd * 129X1/SvJ * 129/Sv * ICR)
MP:0001732	postnatal growth retardation	"slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0001847	brain inflammation	"local accumulation of fluid, plasma proteins, and leukocytes in the brain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Pand Genetic Background: involves: 129/Sv * C57BL/6 Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG8Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0002083	premature death	"death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob} Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Pand Genetic Background: involves: 129/Sv * C57BL/6 Allelic Composition: Fxn^em2Lutzy/Fxn^em2.1Lutzy,Tg(Ckmm-cre)5Khn/? Genetic Background: B6.Cg-Fxn^em2Lutzy Fxn^em2.1Lutzy Tg(Ckmm-cre)5Khn/J
MP:0002086	abnormal extraembryonic tissue morphology	"structural abnormality or development of the membranes involved with embryonic protection and nutrition" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:40594, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Apoe^tm1Unc/Apoe^tm1Unc,Msr1^tm1Csk/Msr1^tm1Csk Genetic Background: either: (involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6J * ICR) or (involves: 129P2/OlaHsd * 129X1/SvJ * 129/Sv * ICR)
MP:0002229	CNS neurodegeneration	"a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0002625	left ventricle hypertrophy	"increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob}
MP:0002654	spongiform encephalopathy	"a neurodegenerative state characterized by the appearance of large vacuolated areas in the brain cells, resembling a sponge" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0002753	dilated left ventricle	"an expansion in the volume of the lower left chamber of the heart" [J:82859, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob}
MP:0002795	dilated cardiomyopathy	"decreased function of the heart associated with cardiac enlargement and congestive heart failure" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob} Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0002883	chromatolysis	"the dissolution of the granules of chromophil substance in a nerve cell body that may occur in injured cells or axons" [dlb:Donna Burkart , Mouse Genome Informatics Curator]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG8Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG22Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0002899	fatigue	"easily exhausted due to mental or physical exertion" [hdene:Howard Dene , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob}
MP:0002953	thick ventricular wall	"increased depth of the cardiac wall of the heart ventricles" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob}
MP:0003141	cardiac fibrosis	"formation of fibrous tissue within the heart often resulting from inflammation or injury " [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob} Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Pand Genetic Background: involves: 129/Sv * C57BL/6
MP:0003224	neuron degeneration	"a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG8Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG22Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0003393	decreased cardiac output	"reduction in the blood volume pumped by each ventricle per minute" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob}
MP:0003674	oxidative stress	"condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG8Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG22Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0003896	prolonged PQ interval	"increase in the length of time between the beginning of atrial depolarisation and the beginning of ventricular depolarisation" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob}
MP:0003915	increased left ventricle weight	"greater than average weight of the left ventricle compared to the average for a particular strain" [RGD:Rat Genome Database submission]	Show Allelic Composition: Fxn^em2Lutzy/Fxn^em2.1Lutzy,Tg(Ckmm-cre)5Khn/? Genetic Background: B6.Cg-Fxn^em2Lutzy Fxn^em2.1Lutzy Tg(Ckmm-cre)5Khn/J
MP:0003984	embryonic growth retardation	"slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Dolk^em1(IMPC)J/Dolk^em1(IMPC)J Genetic Background: C57BL/6NJ-Dolk^em1(IMPC)J/J
MP:0005140	decreased cardiac muscle contractility	"inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fxn^em2Lutzy/Fxn^em2.1Lutzy,Tg(Ckmm-cre)5Khn/? Genetic Background: B6.Cg-Fxn^em2Lutzy Fxn^em2.1Lutzy Tg(Ckmm-cre)5Khn/J
MP:0005319	abnormal enzyme/ coenzyme level	"altered concentration of any of these proteins, or their cofactors, that act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG22Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0005330	cardiomyopathy	"diseases of the heart (myocardium); may result from many causes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:80681]	Show Allelic Composition: Fxn^em2Lutzy/Fxn^em2.1Lutzy,Tg(Ckmm-cre)5Khn/? Genetic Background: B6.Cg-Fxn^em2Lutzy Fxn^em2.1Lutzy Tg(Ckmm-cre)5Khn/J
MP:0005333	decreased heart rate	"fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]	Show Allelic Composition: Fxn^em2Lutzy/Fxn^em2.1Lutzy,Tg(Ckmm-cre)5Khn/? Genetic Background: B6.Cg-Fxn^em2Lutzy Fxn^em2.1Lutzy Tg(Ckmm-cre)5Khn/J
MP:0005402	abnormal action potential	"change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG8Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0005403	abnormal nerve conduction	"anomaly in the act of transmitting electricity along a single nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0005404	abnormal axon morphology	"anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG8Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0005455	increased weight gain	"greater increase in body weight over existing weight when compared to the average increase in weight on the same diet, with equal energy (calorie) intake " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:42702]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG22Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0005584	abnormal enzyme/coenzyme activity	"altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG8Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0005598	decreased ventricle muscle contractility	"reduced ability of the heart ventricle muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob}
MP:0005637	abnormal iron homeostasis	"anomaly in the state of equilibrium in the body with respect to this metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:64456]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob}
MP:0006035	abnormal mitochondrial morphology	"anomalous structure of the mitochondria" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob}
MP:0006038	increased mitochondrial proliferation	"greater than normal reproduction of mitochondria" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob}
MP:0006085	myocardial necrosis	"pathological cell death of the cardiac muscle cells, usually due to irreversible damage" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92722]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob} Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0006404	abnormal lumbar dorsal root ganglion morphology	"any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the lumbar vertebrae" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG8Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0008814	reduced nerve conduction velocity	"decrease in the rate at which an eletrical impulse travels through a nerve" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG8Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0010053	decreased grip strength	"reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]	Show Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG22Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0010724	thick interventricular septum	"increased thickness of the wall between the two lower chambers of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob}
MP:0010955	abnormal respiratory electron transport chain	"anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient" [GO:0022904]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob} Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG8Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0011096	complete embryonic lethality before somite formation	"death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]	Show Allelic Composition: Apoe^tm1Unc/Apoe^tm1Unc,Msr1^tm1Csk/Msr1^tm1Csk Genetic Background: either: (involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6J * ICR) or (involves: 129P2/OlaHsd * 129X1/SvJ * 129/Sv * ICR)
MP:0011100	complete preweaning lethality	"death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]	Show Allelic Composition: Dolk^em1(IMPC)J/Dolk^em1(IMPC)J Genetic Background: C57BL/6NJ-Dolk^em1(IMPC)J/J
MP:0011632	dilated mitochondria	"the luminal space of the mitochondria is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith]	Show Allelic Composition: Fxn^tm2Mkn/Fxn^tm2.1Mkn,Tg(Eno2-cre)39Jme/0 Genetic Background: involves: 129 * C57BL/6J
MP:0013241	embryo tissue necrosis	"morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage" [MGI:csmith]	Show Allelic Composition: Apoe^tm1Unc/Apoe^tm1Unc,Msr1^tm1Csk/Msr1^tm1Csk Genetic Background: either: (involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6J * ICR) or (involves: 129P2/OlaHsd * 129X1/SvJ * 129/Sv * ICR)
MP:0013292	embryonic lethality prior to organogenesis	"death prior to the completion of embryo turning (Mus: E9-9.5)" [MGI:smb]	Show Allelic Composition: Dolk^em1(IMPC)J/Dolk^em1(IMPC)J Genetic Background: C57BL/6NJ-Dolk^em1(IMPC)J/J
MP:0013504	increased embryonic tissue cell apoptosis	"increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death" [MGI:csmith]	Show Allelic Composition: Apoe^tm1Unc/Apoe^tm1Unc,Msr1^tm1Csk/Msr1^tm1Csk Genetic Background: either: (involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6J * ICR) or (involves: 129P2/OlaHsd * 129X1/SvJ * 129/Sv * ICR)
MP:0020367	increased heart iron level	"increase in the amount of iron present in the heart tissue" [MGI:Anna]	Show Allelic Composition: Nodal^{TgR(MPSVNeo)413.dRob}/Nodal^{TgR(MPSVNeo)413.dRob} Genetic Background: 129S/SvEv-Nodal^{TgR(MPSVNeo)413.dRob} Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Pand Genetic Background: involves: 129/Sv * C57BL/6 Allelic Composition: Fxn^tm1Mkn/Fxn^tm1Mkn,Tg(FXN)YG22Pook/0 Genetic Background: involves: 129/Sv * C57BL/6 * CBA
MP:0020423	abnormal mitochondrial biogenesis	"Any anomaly in the the growth and division of pre-existing mitochondria." [PMID:20533901, PMID:25775561]	Show Allelic Composition: Fus^tm1Emcf/Fus⁺ Genetic Background: involves: C3H * C57BL/6J * C57BL/6N

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000025825	Iscu / Q9D7P6 / Iron-sulfur cluster assembly enzyme ISCU, mitochondrial / Q9H1K1* / iron-sulfur cluster assembly enzyme*	/ complex
ENSMUSG00000027618	Nfs1 / Q9Z1J3 / Cysteine desulfurase, mitochondrial / Q9Y697* / AL109827.1* / NFS1, cysteine desulfurase*	/ complex
ENSMUSG00000059363	Fxn / O35943 / Frataxin, mitochondrial Frataxin intermediate form Frataxin mature form / Q16595* / frataxin*	/ complex
ENSMUSG00000046573	Lyrm4 / Q8K215 / LYR motif-containing protein 4 / Q9HD34* / LYR motif containing 4*	/ complex

0 s.

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr