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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Fxn
frataxin
MGI:1096879
72 phenotypes from 7 alleles in 4 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Fxnem1(IMPC)J/Fxnem1(IMPC)J
C57BL/6NJ-Fxnem1(IMPC)J/J 		embryonic lethality prior to organogenesis J:211773
preweaning lethality, complete penetrance J:211773
Fxnem2Lutzy/Fxnem2.1Lutzy
Tg(Ckmm-cre)5Khn/?
B6.Cg-Fxnem2Lutzy Fxnem2.1Lutzy Tg(Ckmm-cre)5Khn/J 		cardiomyopathy J:101977
decreased cardiac muscle contractility J:101977
decreased heart rate J:101977
increased heart left ventricle weight J:101977
premature death J:101977
Fxnem8Lutzy/Fxnem8Lutzy
C57BL/6J-Fxnem8Lutzy 		abnormal cell cycle J:299300
abnormal mitochondrial chromosome morphology J:299300
abnormal mitochondrial physiology J:299300
decreased embryo weight J:299300
decreased fibroblast proliferation J:299300
decreased mitochondrial size J:299300
early cellular replicative senescence J:299300
increased mitochondrial number J:299300
preweaning lethality, incomplete penetrance J:299300
Fxntm1Mkn/Fxntm1Mkn
involves: 129 * C57BL/6J 		abnormal extraembryonic tissue morphology J:62185
decreased embryo size J:62185
embryo tissue necrosis J:62185
embryonic growth arrest J:62185
embryonic lethality between implantation and somite formation, complete penetrance J:62185
normal homeostasis/metabolism phenotype J:62185
increased embryonic tissue cell apoptosis J:62185
Fxntm2Mkn/Fxntm2.1Mkn
Tg(Ckmm-cre)1Lrsn/0
involves: 129 * C57BL/6J 		abnormal iron homeostasis J:75420
abnormal mitochondrial morphology J:90401
abnormal myocardial fiber mitochondrial morphology J:75420
abnormal myocardial fiber morphology J:75420, J:90401
abnormal respiratory electron transport chain J:75420, J:90401
cardiac fibrosis J:75420
cardiac hypertrophy J:75420
decreased cardiac output J:90401
decreased heart ventricle muscle contractility J:90401
dilated cardiomyopathy J:75420, J:90401
dilated heart left ventricle J:90401
fatigue J:75420
heart left ventricle hypertrophy J:75420
increased heart iron level J:75420, J:90401
increased heart left ventricle posterior wall thickness J:90401
increased heart left ventricle wall thickness J:75420
increased heart left ventricle weight J:90401
increased mitochondrial fission J:75420
myocardium necrosis J:75420
premature death J:75420, J:90401
prolonged PR interval J:90401
thick interventricular septum J:90401
weight loss J:75420
Fxntm2Mkn/Fxntm2.1Mkn
Tg(Eno2-cre)39Jme/0
involves: 129 * C57BL/6J 		abnormal gait J:75420
abnormal motor coordination/balance J:75420
abnormal myocardial fiber morphology J:75420
abnormal nerve conduction J:75420
ataxia J:75420
cardiac fibrosis J:75420
cardiac hypertrophy J:75420
decreased body length J:75420
decreased body weight J:75420
dilated cardiomyopathy J:75420
dilated mitochondrion J:75420
hunched posture J:75420
normal muscle phenotype J:75420
myocardium necrosis J:75420
neurodegeneration J:75420
postnatal growth retardation J:75420
premature death J:75420
spongiform encephalopathy J:75420
weight loss J:75420
Gt(ROSA)26Sortm1(H1/tetO-RNAi:Fxn)Dhg/Gt(ROSA)26Sor+
B6.129-Gt(ROSA)26Sortm1(H1/tetO-RNAi:Fxn)Dhg 		abnormal axon morphology J:254962
abnormal enzyme/coenzyme activity J:254962
abnormal myocardial fiber morphology J:254962
abnormal retina pigment epithelium morphology J:254962
abnormal sarcomere morphology J:254962
absent P wave J:254962
ataxia J:254962
cardiac fibrosis J:254962
cardiomyopathy J:254962
decreased grip strength J:254962
decreased locomotor activity J:254962
decreased myelin sheath thickness J:254962
decreased survivor rate J:254962
disorganized mitochondrial cristae J:254962
dorsal root ganglion degeneration J:254962
impaired coordination J:254962
increased heart iron level J:254962
increased mitochondrial size J:254962
premature death J:254962
prolonged QT interval J:254962
retina photoreceptor degeneration J:254962
short stride length J:254962
weight loss J:254962
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory