Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:4416736 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1791823 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4822699 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_010754_10 |
|
Specimen Label: |
euxassay_010754_10 |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4416736 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1791823 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4822699 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_010754_11 |
|
Specimen Label: |
euxassay_010754_11 |
Detected: |
true |
Specimen Num: |
9 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4416736 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1791823 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4822699 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_010754_14 |
|
Specimen Label: |
euxassay_010754_14 |
Detected: |
true |
Specimen Num: |
12 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4416736 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1791823 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4822699 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_010754_15 |
|
Specimen Label: |
euxassay_010754_15 |
Detected: |
true |
Specimen Num: |
13 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1881228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692047 |
Age: |
postnatal adult |
Image: |
UC Davis_1861910 |
|
Specimen Label: |
UC Davis_1861910 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1881228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692047 |
Age: |
postnatal adult |
Image: |
UC Davis_1861911 |
|
Specimen Label: |
UC Davis_1861911 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1881228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692047 |
Age: |
postnatal adult |
Image: |
UC Davis_1861912 |
|
Specimen Label: |
UC Davis_1861912 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1881228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692047 |
Age: |
postnatal adult |
Image: |
UC Davis_1862008 |
|
Specimen Label: |
UC Davis_1862008 |
Detected: |
true |
Specimen Num: |
90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ounissi M |
Year: |
2024 |
Journal: |
Sci Rep |
Title: |
PhagoStat a scalable and interpretable end to end framework for efficient quantification of cell phagocytosis in neurodegenerative disease studies. |
Volume: |
14 |
Issue: |
1 |
Pages: |
6482 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory |
Year: |
2005 |
Journal: |
Unpublished |
Title: |
Information obtained from The Jackson Laboratory, Bar Harbor, ME |
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|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shanghai Model Organisms Center |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
European Mouse Mutant Archive |
Year: |
2003 |
Journal: |
Unpublished |
Title: |
Information obtained from the European Mouse Mutant Archive (EMMA) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom |
Year: |
2023 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity |
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|
•
•
•
•
•
|
Publication |
First Author: |
University of California, Davis |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the University of California, Davis |
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|
|
•
•
•
•
•
|
Publication |
First Author: |
Dickinson ME |
Year: |
2016 |
Journal: |
Nature |
Title: |
High-throughput discovery of novel developmental phenotypes. |
Volume: |
537 |
Issue: |
7621 |
Pages: |
508-514 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
Journal: |
Database Download |
Title: |
Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database |
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|
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|
•
•
•
•
•
|
Publication |
First Author: |
Koscielny G |
Year: |
2014 |
Journal: |
Nucleic Acids Res |
Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
Volume: |
42 |
Issue: |
Database issue |
Pages: |
D802-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
International Knockout Mouse Consortium |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of modified allele data from IKMC and creation of new knockout alleles |
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|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
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|
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|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
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•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
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|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
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|
•
•
•
•
•
|
Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
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•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
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•
•
•
•
•
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Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
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•
•
•
•
•
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Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
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•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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•
•
•
•
•
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Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
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•
•
•
•
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Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
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•
•
•
•
•
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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•
•
•
•
•
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Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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•
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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•
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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•
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
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•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, African clawed |
|
•
•
•
•
•
|
Allele |
Name: |
C9orf72, member of C9orf72-SMCR8 complex; endonuclease-mediated mutation 5, Cathy Lutz |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
C9orf72, member of C9orf72-SMCR8 complex; endonuclease-mediated mutation 1, Kevin Eggan |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Publication |
First Author: |
O'Rourke JG |
Year: |
2015 |
Journal: |
Neuron |
Title: |
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD. |
Volume: |
88 |
Issue: |
5 |
Pages: |
892-901 |
|
•
•
•
•
•
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Publication |
First Author: |
Cicardi ME |
Year: |
2023 |
Journal: |
iScience |
Title: |
C9orf72 poly(PR) mediated neurodegeneration is associated with nucleolar stress. |
Volume: |
26 |
Issue: |
9 |
Pages: |
107505 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lutz C |
Year: |
2020 |
Journal: |
Nat Neurosci |
Title: |
Realizing the gains and losses in C9ORF72 ALS/FTD. |
Volume: |
23 |
Issue: |
5 |
Pages: |
596-597 |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
|
•
•
•
•
•
|
Publication |
First Author: |
Nguyen L |
Year: |
2020 |
Journal: |
Neuron |
Title: |
Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model. |
Volume: |
105 |
Issue: |
4 |
Pages: |
645-662.e11 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cabrera GT |
Year: |
2024 |
Journal: |
Gene Ther |
Title: |
Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo. |
Volume: |
31 |
Issue: |
3-4 |
Pages: |
105-118 |
|
•
•
•
•
•
|
Publication |
First Author: |
Atkinson RA |
Year: |
2016 |
Journal: |
Acta Neuropathol Commun |
Title: |
Erratum: C9ORF72 expression and cellular localization over mouse development. |
Volume: |
4 |
|
Pages: |
2 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhu Q |
Year: |
2020 |
Journal: |
Nat Neurosci |
Title: |
Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72. |
Volume: |
23 |
Issue: |
5 |
Pages: |
615-624 |
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•
•
•
•
•
|
Publication |
First Author: |
Czuppa M |
Year: |
2022 |
Journal: |
Cell Rep |
Title: |
Drug screen in iPSC-Neurons identifies nucleoside analogs as inhibitors of (G4C2)n expression in C9orf72 ALS/FTD. |
Volume: |
39 |
Issue: |
10 |
Pages: |
110913 |
|
•
•
•
•
•
|
Publication |
First Author: |
Piao X |
Year: |
2022 |
Journal: |
Sci Rep |
Title: |
Dual-gRNA approach with limited off-target effect corrects C9ORF72 repeat expansion in vivo. |
Volume: |
12 |
Issue: |
1 |
Pages: |
5672 |
|
•
•
•
•
•
|
UniProt Feature |
Begin: |
1 |
Description: |
Guanine nucleotide exchange factor C9orf72 homolog |
Type: |
chain |
End: |
481 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jambeau M |
Year: |
2022 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Comprehensive evaluation of human-derived anti-poly-GA antibodies in cellular and animal models of C9orf72 disease. |
Volume: |
119 |
Issue: |
49 |
Pages: |
e2123487119 |
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•
•
•
•
•
|
Publication |
First Author: |
Shi Y |
Year: |
2019 |
Journal: |
JCI Insight |
Title: |
Identification and therapeutic rescue of autophagosome and glutamate receptor defects in C9ORF72 and sporadic ALS neurons. |
Volume: |
5 |
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•
•
•
•
•
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Publication |
First Author: |
Martier R |
Year: |
2019 |
Journal: |
Mol Ther Nucleic Acids |
Title: |
Targeting RNA-Mediated Toxicity in C9orf72 ALS and/or FTD by RNAi-Based Gene Therapy. |
Volume: |
16 |
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Pages: |
26-37 |
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•
•
•
•
|
Publication |
First Author: |
Pattamatta A |
Year: |
2021 |
Journal: |
Hum Mol Genet |
Title: |
Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice. |
Volume: |
29 |
Issue: |
24 |
Pages: |
3900-3918 |
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•
•
•
•
|
HT Experiment |
Series Id: |
GSE77720 |
Experiment Type: |
RNA-Seq |
Study Type: |
Baseline |
Source: |
ArrayExpress |
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•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
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•
•
•
•
•
|
HT Experiment |
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Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
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•
•
•
•
•
|
Publication |
First Author: |
Peters OM |
Year: |
2015 |
Journal: |
Neuron |
Title: |
Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice. |
Volume: |
88 |
Issue: |
5 |
Pages: |
902-909 |
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•
•
•
•
•
|
Publication |
First Author: |
Ryan S |
Year: |
2019 |
Journal: |
Neurobiol Aging |
Title: |
CRISPR/Cas9 does not facilitate stable expression of long C9orf72 dipeptides in mice. |
Volume: |
84 |
|
Pages: |
235.e1-235.e8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Atanasio A |
Year: |
2016 |
Journal: |
Sci Rep |
Title: |
C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice. |
Volume: |
6 |
|
Pages: |
23204 |
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•
•
•
•
|
Publication |
First Author: |
Schludi MH |
Year: |
2017 |
Journal: |
Acta Neuropathol |
Title: |
Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss. |
Volume: |
134 |
Issue: |
2 |
Pages: |
241-254 |
|
•
•
•
•
•
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HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
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•
•
•
•
•
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Publication |
First Author: |
Bennett CL |
Year: |
2023 |
Journal: |
Acta Neuropathol Commun |
Title: |
Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity. |
Volume: |
11 |
Issue: |
1 |
Pages: |
164 |
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•
•
•
•
•
|
Publication |
First Author: |
Farg MA |
Year: |
2017 |
Journal: |
Hum Mol Genet |
Title: |
The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis. |
Volume: |
26 |
Issue: |
15 |
Pages: |
2882-2896 |
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•
•
•
•
•
|
Publication |
First Author: |
Zhou Q |
Year: |
2020 |
Journal: |
EMBO Mol Med |
Title: |
Active poly-GA vaccination prevents microglia activation and motor deficits in a C9orf72 mouse model. |
Volume: |
12 |
Issue: |
2 |
Pages: |
e10919 |
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•
•
•
•
|
Publication |
First Author: |
Hao Z |
Year: |
2019 |
Journal: |
Nat Commun |
Title: |
Motor dysfunction and neurodegeneration in a C9orf72 mouse line expressing poly-PR. |
Volume: |
10 |
Issue: |
1 |
Pages: |
2906 |
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•
•
•
•
|
Publication |
First Author: |
LaClair KD |
Year: |
2020 |
Journal: |
Acta Neuropathol |
Title: |
Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS. |
Volume: |
140 |
Issue: |
2 |
Pages: |
121-142 |
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•
•
•
•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
420
 |
Fragment?: |
false |
|
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•
•
•
•
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Publication |
First Author: |
Rosbash M |
Year: |
2020 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Metformin treatment of the C9orf72 ALS/FTD mouse: Almost too good for words. |
Volume: |
117 |
Issue: |
33 |
Pages: |
19627-19628 |
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•
•
•
•
•
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Allele |
Name: |
transgene insertion 500, Laura Ranum |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
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Interaction Experiment |
Description: |
C9orf72 poly-PR helps p53 escape from the ubiquitin-proteasome system and promotes its stability. |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(C9orf72)500Lpwr/? |
Background: |
FVB/NJ-Tg(C9orf72)500Lpwr |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Interaction Experiment |
Description: |
Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death. |
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•
•
•
•
•
|
Allele |
Name: |
C9orf72, member of C9orf72-SMCR8 complex; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Publication |
First Author: |
Amick J |
Year: |
2016 |
Journal: |
Mol Biol Cell |
Title: |
C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling. |
Volume: |
27 |
Issue: |
20 |
Pages: |
3040-3051 |
|
•
•
•
•
•
|
Publication |
First Author: |
Celona B |
Year: |
2017 |
Journal: |
Elife |
Title: |
Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106. |
Volume: |
6 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang YJ |
Year: |
2019 |
Journal: |
Science |
Title: |
Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity. |
Volume: |
363 |
Issue: |
6428 |
|
|
•
•
•
•
•
|
Transgene |
Type: |
transgene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
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DO Term |
|
•
•
•
•
•
|
Publication |
First Author: |
Rodriguez S |
Year: |
2021 |
Journal: |
Sci Transl Med |
Title: |
Genome-encoded cytoplasmic double-stranded RNAs, found in C9ORF72 ALS-FTD brain, propagate neuronal loss. |
Volume: |
13 |
Issue: |
601 |
|
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
Publication |
First Author: |
Yang F |
Year: |
2023 |
Journal: |
J Neurochem |
Title: |
C9orf72 poly-PR helps p53 escape from the ubiquitin-proteasome system and promotes its stability. |
Volume: |
166 |
Issue: |
2 |
Pages: |
389-402 |
|
•
•
•
•
•
|
Publication |
First Author: |
Herranz-Martin S |
Year: |
2017 |
Journal: |
Dis Model Mech |
Title: |
Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits. |
Volume: |
10 |
Issue: |
7 |
Pages: |
859-868 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fomin V |
Year: |
2018 |
Journal: |
Mol Cell Biol |
Title: |
The C9ORF72 Gene, Implicated in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia, Encodes a Protein That Functions in Control of Endothelin and Glutamate Signaling. |
Volume: |
38 |
Issue: |
22 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Riemslagh FW |
Year: |
2021 |
Journal: |
Dis Model Mech |
Title: |
Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Liu Y |
Year: |
2021 |
Journal: |
Nat Commun |
Title: |
Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models. |
Volume: |
12 |
Issue: |
1 |
Pages: |
847 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kandasamy P |
Year: |
2022 |
Journal: |
Nucleic Acids Res |
Title: |
Impact of guanidine-containing backbone linkages on stereopure antisense oligonucleotides in the CNS. |
Volume: |
50 |
Issue: |
10 |
Pages: |
5401-5423 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu Y |
Year: |
2022 |
Journal: |
Mol Ther Nucleic Acids |
Title: |
Preclinical evaluation of WVE-004, aninvestigational stereopure oligonucleotide forthe treatment of C9orf72-associated ALS or FTD. |
Volume: |
28 |
|
Pages: |
558-570 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fu X |
Year: |
2024 |
Journal: |
Exp Neurol |
Title: |
DDX3X overexpression decreases dipeptide repeat proteins in a mouse model of C9ORF72-ALS/FTD. |
Volume: |
376 |
|
Pages: |
114768 |
|
•
•
•
•
•
|
Publication |
First Author: |
Castelli LM |
Year: |
2023 |
Journal: |
Sci Transl Med |
Title: |
A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins. |
Volume: |
15 |
Issue: |
685 |
Pages: |
eabo3823 |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 450B, Clotilde Lagier-Tourenne |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
gene trap ROSA 26, Philippe Soriano; targeted mutation 1, Leonard Guarente |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, Inserted expressed sequence |
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•
•
•
•
|