Type |
Details |
Score |
Genotype |
Symbol: |
Tg(FXN)YG22Pook/? |
Background: |
B6J.Cg-Tg(FXN)YG22Pook |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Camk2a/Camk2a |
Background: |
involves: C57BL/6J * DBA/2J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Camk2a/Camk2a<+> |
Background: |
involves: C57BL/6J * DBA/2J |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Frataxin is a mitochondrial protein, mutation of which leads to the disease Friedreich's ataxia []. Its orthologs are widely distributed in the bacteria, associated with the ISC system for iron-sulphur cluster assembly, and designated CyaY. Friedreich's ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the gene encoding frataxin (FRDA). Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate (including liver, kidney, brown fat and heart). Mouse and yeast frataxin homologues contain a potential N-terminal mitochondrial targeting sequence, and human frataxin has been observed to co-localise with a mitochondrial protein. Furthermore, disruption of the yeast gene has been shown to result in mitochondrial dysfunction. Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, expansion of an intronic GAA triplet repeat) [, , ]. |
|
•
•
•
•
•
|
Publication |
First Author: |
Miranda CJ |
Year: |
2002 |
Journal: |
FEBS Lett |
Title: |
Frataxin knockin mouse. |
Volume: |
512 |
Issue: |
1-3 |
Pages: |
291-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pauls E |
Year: |
2013 |
Journal: |
J Immunol |
Title: |
Two phases of inflammatory mediator production defined by the study of IRAK2 and IRAK1 knock-in mice. |
Volume: |
191 |
Issue: |
5 |
Pages: |
2717-30 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang L |
Year: |
2015 |
Journal: |
PLoS One |
Title: |
Dopamine receptor and Gα(olf) expression in DYT1 dystonia mouse models during postnatal development. |
Volume: |
10 |
Issue: |
4 |
Pages: |
e0123104 |
|
•
•
•
•
•
|
Publication |
First Author: |
Charton K |
Year: |
2010 |
Journal: |
Hum Mol Genet |
Title: |
Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. |
Volume: |
19 |
Issue: |
23 |
Pages: |
4608-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
Charton K |
Year: |
2015 |
Journal: |
Hum Mol Genet |
Title: |
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. |
Volume: |
24 |
Issue: |
13 |
Pages: |
3718-31 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
endonuclease-mediated mutation, mutant stock, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
transgenic, mutant stock, endonuclease-mediated mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Capn3/Capn3<+> Ttn/Ttn<+> |
Background: |
involves: 129/Sv * 129S2/SvPas * C57BL/6 |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Capn3/Capn3<+> Ttn/Ttn |
Background: |
involves: 129/Sv * 129S2/SvPas * C57BL/6 |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Irak1/? Irak2/? |
Background: |
involves: 129P2/OlaHsd * C57BL/6 |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Bag3/Bag3 Tg(Myhca-cre)1Abel/? |
Background: |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N * FVB/N |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Layer G |
Year: |
2006 |
Journal: |
J Biol Chem |
Title: |
Iron-sulfur cluster biosynthesis: characterization of Escherichia coli CYaY as an iron donor for the assembly of [2Fe-2S] clusters in the scaffold IscU. |
Volume: |
281 |
Issue: |
24 |
Pages: |
16256-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Vivas E |
Year: |
2006 |
Journal: |
J Bacteriol |
Title: |
Salmonella enterica strains lacking the frataxin homolog CyaY show defects in Fe-S cluster metabolism in vivo. |
Volume: |
188 |
Issue: |
3 |
Pages: |
1175-9 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
145
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Koutnikova H |
Year: |
1997 |
Journal: |
Nat Genet |
Title: |
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. |
Volume: |
16 |
Issue: |
4 |
Pages: |
345-51 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
207
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
207
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
207
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
101
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
84
|
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Dürr A |
Year: |
1996 |
Journal: |
N Engl J Med |
Title: |
Clinical and genetic abnormalities in patients with Friedreich's ataxia. |
Volume: |
335 |
Issue: |
16 |
Pages: |
1169-75 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gibson TJ |
Year: |
1996 |
Journal: |
Trends Neurosci |
Title: |
Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction. |
Volume: |
19 |
Issue: |
11 |
Pages: |
465-8 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
The eukaryotic proteins in this entry include frataxin, the protein that is mutated in Friedreich's ataxia [], and related sequences. Friedreich's ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the gene encoding frataxin (FRDA). Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate (including liver, kidney, brown fat and heart). Mouse and yeast frataxin homologues contain a potential N-terminal mitochondrial targeting sequence, and human frataxin has been observed to co-localise with a mitochondrial protein. Furthermore, disruption of the yeast gene has been shown to result in mitochondrial dysfunction. Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, expansion of an intronic GAA triplet repeat) [, , ].The bacterial proteins in this entry are iron-sulphur cluster (FeS) metabolism CyaY proteins homologous to eukaryotic frataxin. Partial Phylogenetic Profiling []suggests that CyaY most likely functions as part of the ISC system for FeS cluster biosynthesis, and is supported by expermimental data in some species [, ]. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Homologous_superfamily |
Description: |
The eukaryotic proteins in this entry include frataxin, the protein that is mutated in Friedreich's ataxia [], and related sequences. Friedreich's ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the gene encoding frataxin (FRDA). Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate (including liver, kidney, brown fat and heart). Mouse and yeast frataxin homologues contain a potential N-terminal mitochondrial targeting sequence, and human frataxin has been observed to co-localise with a mitochondrial protein. Furthermore, disruption of the yeast gene has been shown to result in mitochondrial dysfunction. Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, expansion of an intronic GAA triplet repeat) [, , ].The bacterial proteins in this entry are iron-sulphur cluster (FeS) metabolism CyaY proteins homologous to eukaryotic frataxin. Partial Phylogenetic Profiling []suggests that CyaY most likely functions as part of the ISC system for FeS cluster biosynthesis, and is supported by expermimental data in some species [, ]. The structure of Frataxin/CyaY has an α-β(5)-alpha fold arranged in two layers (alpha/beta) with meander antiparallel sheet. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Conserved_site |
Description: |
The eukaryotic proteins in this entry include frataxin, the protein that is mutated in Friedreich's ataxia [], and related sequences. Friedreich's ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the gene encoding frataxin (FRDA). Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate (including liver, kidney, brown fat and heart). Mouse and yeast frataxin homologues contain a potential N-terminal mitochondrial targeting sequence, and human frataxin has been observed to co-localise with a mitochondrial protein. Furthermore, disruption of the yeast gene has been shown to result in mitochondrial dysfunction. Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, expansion of an intronic GAA triplet repeat) [, , ].The bacterial proteins in this entry are iron-sulphur cluster (FeS) metabolism CyaY proteins homologous to eukaryotic frataxin. Partial Phylogenetic Profiling []suggests that CyaY most likely functions as part of the ISC system for FeS cluster biosynthesis, and is supported by expermimental data in some species [, ]. This conserved site covers a conserved region in the central section of these proteins. |
|
•
•
•
•
•
|
Publication |
First Author: |
Knebelmann B |
Year: |
1991 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome. |
Volume: |
88 |
Issue: |
9 |
Pages: |
3767-71 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yokoi F |
Year: |
2011 |
Journal: |
PLoS One |
Title: |
Motor deficits and decreased striatal dopamine receptor 2 binding activity in the striatum-specific Dyt1 conditional knockout mice. |
Volume: |
6 |
Issue: |
9 |
Pages: |
e24539 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yokoi F |
Year: |
2010 |
Journal: |
J Biochem |
Title: |
Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce. |
Volume: |
148 |
Issue: |
4 |
Pages: |
459-66 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, targeted mutation, transgenic |
|
•
•
•
•
•
|
Publication |
First Author: |
Bourn RL |
Year: |
2012 |
Journal: |
PLoS One |
Title: |
Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues. |
Volume: |
7 |
Issue: |
10 |
Pages: |
e47085 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang H |
Year: |
2010 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Allele-specific tumor spectrum in pten knockin mice. |
Volume: |
107 |
Issue: |
11 |
Pages: |
5142-7 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, targeted mutation, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation, transgenic |
|
•
•
•
•
•
|
Publication |
First Author: |
Pook MA |
Year: |
2001 |
Journal: |
Neurogenetics |
Title: |
Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis. |
Volume: |
3 |
Issue: |
4 |
Pages: |
185-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shan Y |
Year: |
2013 |
Journal: |
Antioxid Redox Signal |
Title: |
Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model. |
Volume: |
19 |
Issue: |
13 |
Pages: |
1481-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mollá B |
Year: |
2016 |
Journal: |
Dis Model Mech |
Title: |
Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia. |
Volume: |
9 |
Issue: |
6 |
Pages: |
647-57 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rodríguez-Pascau L |
Year: |
2021 |
Journal: |
Neurobiol Dis |
Title: |
PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia. |
Volume: |
148 |
|
Pages: |
105162 |
|
•
•
•
•
•
|
Publication |
First Author: |
Santoro A |
Year: |
2018 |
Journal: |
Hum Mol Genet |
Title: |
Effect of diazoxide on Friedreich ataxia models. |
Volume: |
27 |
Issue: |
6 |
Pages: |
992-1001 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jones J |
Year: |
2013 |
Journal: |
PLoS One |
Title: |
Stem cells from wildtype and Friedreich's ataxia mice present similar neuroprotective properties in dorsal root ganglia cells. |
Volume: |
8 |
Issue: |
5 |
Pages: |
e62807 |
|
•
•
•
•
•
|
Publication |
First Author: |
Muñoz-Lasso DC |
Year: |
2020 |
Journal: |
Sci Rep |
Title: |
Cofilin dysregulation alters actin turnover in frataxin-deficient neurons. |
Volume: |
10 |
Issue: |
1 |
Pages: |
5207 |
|
•
•
•
•
•
|
Allele |
Name: |
tyrosinase; endonuclease-mediated mutation 19, Paul Overbeek |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fxn/Fxn Tg(FXN)YG8Pook/? |
Background: |
involves: 129/Sv * C57BL/6 * CBA |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fxn/Fxn Tg(FXN)YG22Pook/? |
Background: |
involves: 129/Sv * C57BL/6 * CBA |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Calmels N |
Year: |
2009 |
Journal: |
PLoS One |
Title: |
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. |
Volume: |
4 |
Issue: |
7 |
Pages: |
e6379 |
|
•
•
•
•
•
|
Publication |
First Author: |
Torremans A |
Year: |
2005 |
Journal: |
J Neurol Sci |
Title: |
Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency. |
Volume: |
231 |
Issue: |
1-2 |
Pages: |
49-55 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fujita M |
Year: |
2009 |
Journal: |
Cancer Res |
Title: |
Effective immunotherapy against murine gliomas using type 1 polarizing dendritic cells--significant roles of CXCL10. |
Volume: |
69 |
Issue: |
4 |
Pages: |
1587-95 |
|
•
•
•
•
•
|
Publication |
First Author: |
Poburski D |
Year: |
2016 |
Journal: |
Biol Open |
Title: |
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia. |
Volume: |
5 |
Issue: |
5 |
Pages: |
654-61 |
|
•
•
•
•
•
|
Publication |
First Author: |
Igoillo-Esteve M |
Year: |
2020 |
Journal: |
JCI Insight |
Title: |
Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia. |
Volume: |
5 |
Issue: |
2 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Sarsero JP |
Year: |
2014 |
Journal: |
PLoS One |
Title: |
Rescue of the Friedreich ataxia knockout mutation in transgenic mice containing an FXN-EGFP genomic reporter. |
Volume: |
9 |
Issue: |
3 |
Pages: |
e93307 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sarsero JP |
Year: |
2004 |
Journal: |
Mamm Genome |
Title: |
Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice. |
Volume: |
15 |
Issue: |
5 |
Pages: |
370-82 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chang JC |
Year: |
2024 |
Journal: |
Mol Ther Methods Clin Dev |
Title: |
AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia. |
Volume: |
32 |
Issue: |
1 |
Pages: |
101193 |
|
•
•
•
•
•
|
Publication |
First Author: |
Medina-Carbonero M |
Year: |
2022 |
Journal: |
Cell Mol Life Sci |
Title: |
Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations. |
Volume: |
79 |
Issue: |
2 |
Pages: |
74 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cotticelli MG |
Year: |
2019 |
Journal: |
J Pharmacol Exp Ther |
Title: |
Ferroptosis as a Novel Therapeutic Target for Friedreich's Ataxia. |
Volume: |
369 |
Issue: |
1 |
Pages: |
47-54 |
|
•
•
•
•
•
|
Publication |
First Author: |
Martiniuk F |
Year: |
1985 |
Journal: |
Hum Genet |
Title: |
Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization. |
Volume: |
69 |
Issue: |
2 |
Pages: |
109-11 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jiralerspong S |
Year: |
1997 |
Journal: |
Neurobiol Dis |
Title: |
Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo. |
Volume: |
4 |
Issue: |
2 |
Pages: |
103-13 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zheng R |
Year: |
2010 |
Journal: |
J Cell Sci |
Title: |
Polypurine-repeat-containing RNAs: a novel class of long non-coding RNA in mammalian cells. |
Volume: |
123 |
Issue: |
Pt 21 |
Pages: |
3734-44 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fil D |
Year: |
2020 |
Journal: |
Dis Model Mech |
Title: |
Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia. |
Volume: |
13 |
Issue: |
7 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wilkes BJ |
Year: |
2021 |
Journal: |
Exp Neurol |
Title: |
Cell-specific effects of Dyt1 knock-out on sensory processing, network-level connectivity, and motor deficits. |
Volume: |
343 |
|
Pages: |
113783 |
|
•
•
•
•
•
|
Publication |
First Author: |
Dang MT |
Year: |
2005 |
Journal: |
Exp Neurol |
Title: |
Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. |
Volume: |
196 |
Issue: |
2 |
Pages: |
452-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yokoi F |
Year: |
2012 |
Journal: |
Behav Brain Res |
Title: |
Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-out. |
Volume: |
230 |
Issue: |
2 |
Pages: |
389-98 |
|
•
•
•
•
•
|
Publication |
First Author: |
Dang MT |
Year: |
2006 |
Journal: |
Neurosci Res |
Title: |
Motor deficits and hyperactivity in Dyt1 knockdown mice. |
Volume: |
56 |
Issue: |
4 |
Pages: |
470-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sahdeo S |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. |
Volume: |
23 |
Issue: |
25 |
Pages: |
6848-62 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hayashi G |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia. |
Volume: |
23 |
Issue: |
25 |
Pages: |
6838-47 |
|
•
•
•
•
•
|
Publication |
First Author: |
Franco C |
Year: |
2012 |
Journal: |
Mol Neurodegener |
Title: |
Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons. |
Volume: |
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