Type |
Details |
Score |
Publication |
First Author: |
Helmholtz Zentrum Muenchen GmbH |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu) |
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•
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•
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Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
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•
•
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•
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Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
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•
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Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
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•
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Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
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Title: |
GemPharmatech Website. |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
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•
•
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Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
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Title: |
Cyagen Biosciences Website. |
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•
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Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
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Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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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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•
•
•
•
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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: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
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Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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•
•
•
•
•
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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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•
•
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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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•
•
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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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•
•
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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 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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•
•
•
•
•
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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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•
•
•
•
•
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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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•
•
•
•
•
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Publication |
First Author: |
Li F |
Year: |
2009 |
Journal: |
Mol Vis |
Title: |
DHA does not protect ELOVL4 transgenic mice from retinal degeneration. |
Volume: |
15 |
|
Pages: |
1185-93 |
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•
•
•
•
•
|
Publication |
First Author: |
Karan G |
Year: |
2005 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration. |
Volume: |
102 |
Issue: |
11 |
Pages: |
4164-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Logan S |
Year: |
2013 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy. |
Volume: |
110 |
Issue: |
14 |
Pages: |
5446-51 |
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•
•
•
•
•
|
Publication |
First Author: |
Harkewicz R |
Year: |
2012 |
Journal: |
J Biol Chem |
Title: |
Essential role of ELOVL4 protein in very long chain fatty acid synthesis and retinal function. |
Volume: |
287 |
Issue: |
14 |
Pages: |
11469-80 |
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•
•
•
•
•
|
Publication |
First Author: |
Yu M |
Year: |
2012 |
Journal: |
J Lipid Res |
Title: |
ELOVL4 protein preferentially elongates 20:5n3 to very long chain PUFAs over 20:4n6 and 22:6n3. |
Volume: |
53 |
Issue: |
3 |
Pages: |
494-504 |
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•
•
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•
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DO Term |
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•
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•
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Allele |
Name: |
transgene insertion M68-60, Merck Research Laboratory |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
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•
•
•
•
•
|
Allele |
Name: |
transgene insertion M68-17, Merck Research Laboratory |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
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•
•
•
•
•
|
Allele |
Name: |
transgene insertion A, Wojciech Kedzierski |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
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•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, transgenic |
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•
•
•
•
•
|
Allele |
Name: |
transgene insertion M68-30, Merck Research Laboratory |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
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•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, transgenic |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion M69-80, Merck Research Laboratory |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
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•
•
•
•
•
|
Allele |
Name: |
transgene insertion M69-53, Merck Research Laboratory |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion M69-123, Merck Research Laboratory |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, transgenic |
|
•
•
•
•
•
|
Publication |
First Author: |
Tvrdik P |
Year: |
2000 |
Journal: |
J Cell Biol |
Title: |
Role of a new mammalian gene family in the biosynthesis of very long chain fatty acids and sphingolipids. |
Volume: |
149 |
Issue: |
3 |
Pages: |
707-18 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
181
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
180
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
202
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Oh CS |
Year: |
1997 |
Journal: |
J Biol Chem |
Title: |
ELO2 and ELO3, homologues of the Saccharomyces cerevisiae ELO1 gene, function in fatty acid elongation and are required for sphingolipid formation. |
Volume: |
272 |
Issue: |
28 |
Pages: |
17376-84 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Conserved_site |
Description: |
This entry represents a conserved site found in the ELO (Elongation of fatty acids protein) family members, such as:Mammalian proteins ELOVL1 (Elongation of very long chain fatty acids protein 1) to ELOVL4 []. These proteins all seem to beinvolved in the synthesis of very long chain fatty acids.Yeast ELO1, ELO2 and ELO3 []. They seem to be components of membrane-boundfatty acid elongation systems.Caenorhabditis elegans hypothetical protein C40H1.4.Caenorhabditis elegans hypothetical protein D2024.3.The proteins have from 271 to 435 amino acid residues. Structurally, they seemto be formed of three sections: a N-terminal region with two transmembranedomains, a central hydrophilic loop and a C-terminal region that contains fromone to three transmembrane domains. This entry represents aconserved region that contains three histidines. This region is located in thehydrophilic loop. |
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•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
74
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
el-Sherbeini M |
Year: |
1995 |
Journal: |
J Bacteriol |
Title: |
Cloning and characterization of GNS1: a Saccharomyces cerevisiae gene involved in synthesis of 1,3-beta-glucan in vitro. |
Volume: |
177 |
Issue: |
11 |
Pages: |
3227-34 |
|
•
•
•
•
•
|
Publication |
First Author: |
GarcÃa-Arranz M |
Year: |
1994 |
Journal: |
J Biol Chem |
Title: |
Transcriptional control of yeast plasma membrane H(+)-ATPase by glucose. Cloning and characterization of a new gene involved in this regulation. |
Volume: |
269 |
Issue: |
27 |
Pages: |
18076-82 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang Q |
Year: |
2018 |
Journal: |
Microbiol Res |
Title: |
A critical role for very long-chain fatty acid elongases in oleic acid-mediated Saccharomyces cerevisiae cytotoxicity. |
Volume: |
207 |
|
Pages: |
1-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Naganuma T |
Year: |
2011 |
Journal: |
FEBS Lett |
Title: |
Biochemical characterization of the very long-chain fatty acid elongase ELOVL7. |
Volume: |
585 |
Issue: |
20 |
Pages: |
3337-41 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mueller N |
Year: |
2019 |
Journal: |
J Med Genet |
Title: |
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. |
Volume: |
56 |
Issue: |
3 |
Pages: |
164-175 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
The ELO family consist of eukaryotic integral membrane proteins involved in fatty acid elongation. This family consist of:Mammalian proteins ELOVL1 to ELOVL7 [, ]. These proteins catalyse the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle, each of them has a specific substrate specificity and physiological functions.Yeast ELO1, ELO2 and ELO3 [, ]. They are components of a microsomal membrane-bound long-chain fatty acid elongation system.Caenorhabditis elegans hypothetical protein C40H1.4.Caenorhabditis elegans hypothetical protein D2024.3.This group of eukaryotic integral membrane proteinsare evolutionary related and have from 290 to 435 amino acid residues. Structurally, they seem to be formed of three sections: a N-terminal region with two transmembrane domains, a central hydrophilic loop and a C-terminal region that contains from one to three transmembrane domains. Members of this family are involved in long chain fatty acid elongation systems that produce the 26-carbon precursors for ceramide and sphingolipid synthesis []. Yeast ELO3 () affects plasma membrane H+-ATPase activity, and may act on a glucose-signalling pathway that controls the expression of several genes that are transcriptionally regulated by glucose such as PMA1 []. It plays an important role in lipotoxic cell death induced by oleic acid through maintaining a balanced fatty acid composition in the plasma membrane []. Mammalian ELOVLs are also associated with known pathologies. ELOVL1 catalyses elongation of saturated and monounsaturated C22-C26-VLCFAs, and dominant mutations cause ichthyosis, hypomyelination of the central white matter that leads to spastic paraplegia and central nystagmus and optic atrophy [], dominant ELOVL4 mutations cause a juvenile macular dystrophy (Stargardt disease-3) and Elovl4 knockout mice die soon after birth due to a deficiency in skin barrier formation. Studies in Elovl6-null mice have revealed that ELOVL6 is involved in an obesity-induced insulin resistance and ELOVL7 is involved in prostate cancer growth []. |
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•
•
•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
279
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
281
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
292
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
267
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
271
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
273
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
248
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
275
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
200
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
279
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
292
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
299
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
36
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
111
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
71
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
71
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
299
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
180
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Dejos C |
Year: |
2018 |
Journal: |
Sci Rep |
Title: |
Photoreceptor-induced RPE phagolysosomal maturation defects in Stargardt-like Maculopathy (STGD3). |
Volume: |
8 |
Issue: |
1 |
Pages: |
5944 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kuny S |
Year: |
2012 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Differential gene expression in eyecup and retina of a mouse model of Stargardt-like macular dystrophy (STGD3). |
Volume: |
53 |
Issue: |
2 |
Pages: |
664-75 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kuny S |
Year: |
2015 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Early Onset Ultrastructural and Functional Defects in RPE and Photoreceptors of a Stargardt-Like Macular Dystrophy (STGD3) Transgenic Mouse Model. |
Volume: |
56 |
Issue: |
12 |
Pages: |
7109-21 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kuny S |
Year: |
2010 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Inner retina remodeling in a mouse model of stargardt-like macular dystrophy (STGD3). |
Volume: |
51 |
Issue: |
4 |
Pages: |
2248-62 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yan Y |
Year: |
2023 |
Journal: |
Cancers (Basel) |
Title: |
The NOTCH-RIPK4-IRF6-ELOVL4 Axis Suppresses Squamous Cell Carcinoma. |
Volume: |
15 |
Issue: |
3 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Sassa T |
Year: |
2018 |
Journal: |
FASEB J |
Title: |
Very long-chain tear film lipids produced by fatty acid elongase ELOVL1 prevent dry eye disease in mice. |
Volume: |
32 |
Issue: |
6 |
Pages: |
2966-2978 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sen NE |
Year: |
2019 |
Journal: |
Int J Mol Sci |
Title: |
In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism. |
Volume: |
20 |
Issue: |
23 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Taconic |
Year: |
2006 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from Taconic website. |
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•
•
•
•
•
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