Type |
Details |
Score |
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
Gene Ontology Annotation by the MGI Curatorial Staff |
|
|
|
|
•
•
•
•
•
|
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: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen GM |
Year: |
2008 |
Journal: |
Genome Res |
Title: |
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. |
Volume: |
18 |
Issue: |
10 |
Pages: |
1670-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki N |
Year: |
2003 |
Journal: |
DNA Res |
Title: |
Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. |
Volume: |
10 |
Issue: |
1 |
Pages: |
35-48 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
RIKEN Data Curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Stryke D |
Year: |
2003 |
Journal: |
Nucleic Acids Res |
Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
Volume: |
31 |
Issue: |
1 |
Pages: |
278-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
International Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Magdaleno S |
Year: |
2006 |
Journal: |
PLoS Biol |
Title: |
BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. |
Volume: |
4 |
Issue: |
4 |
Pages: |
e86 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
UniProt Feature |
Begin: |
1 |
Description: |
ALS2 C-terminal-like protein |
Type: |
chain |
End: |
952 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hadano S |
Year: |
2005 |
Journal: |
Methods Enzymol |
Title: |
Purification and functional analyses of ALS2 and its homologue. |
Volume: |
403 |
|
Pages: |
310-21 |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, African clawed |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
952
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
952
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Yamanaka K |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. |
Volume: |
100 |
Issue: |
26 |
Pages: |
16041-6 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
260
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
849
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
39
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Allele |
Name: |
ALS2 C-terminal like; wild type |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wright RM |
Year: |
1997 |
Journal: |
Redox Rep |
Title: |
Molecular cloning, refined chromosomal mapping and structural analysis of the human gene encoding aldehyde oxidase (AOX1), a candidate for the ALS2 gene. |
Volume: |
3 |
Issue: |
3 |
Pages: |
135-44 |
|
•
•
•
•
•
|
Allele |
Name: |
ALS2 C-terminal like; endonuclease-mediated mutation 1, Jackson |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
Allele |
Name: |
ALS2 C-terminal like; targeted mutation 1a, Wellcome Trust Sanger Institute |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, Null/knockout, Reporter |
|
•
•
•
•
•
|
Allele |
Name: |
ALS2 C-terminal like; targeted mutation 1e, Wellcome Trust Sanger Institute |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout, Reporter |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
Allele |
Name: |
ALS2 C-terminal like; endonuclease-mediated mutation 1, GemPharmatech Co., Ltd |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Conditional ready, No functional change |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Als2cl/Als2cl |
Background: |
C57BL/6NJ-Als2cl/Mmjax |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Mitchem KL |
Year: |
2002 |
Journal: |
Hum Mol Genet |
Title: |
Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6. |
Volume: |
11 |
Issue: |
16 |
Pages: |
1887-98 |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Allele |
Name: |
ALS2 C-terminal like; gene trap IST12509D1, Texas A&M Institute for Genomic Medicine |
Allele Type: |
Gene trapped |
|
|
•
•
•
•
•
|
Allele |
Name: |
ALS2 C-terminal like; gene trap IST12842H5, Texas A&M Institute for Genomic Medicine |
Allele Type: |
Gene trapped |
|
|
•
•
•
•
•
|
Allele |
Name: |
ALS2 C-terminal like; gene trap IST13596B9, Texas A&M Institute for Genomic Medicine |
Allele Type: |
Gene trapped |
|
|
•
•
•
•
•
|
Allele |
Name: |
ALS2 C-terminal like; gene trap IST13851B5, Texas A&M Institute for Genomic Medicine |
Allele Type: |
Gene trapped |
|
|
•
•
•
•
•
|
Allele |
Name: |
ALS2 C-terminal like; gene trap IST15016C12, Texas A&M Institute for Genomic Medicine |
Allele Type: |
Gene trapped |
|
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, endonuclease-mediated mutation |
|
•
•
•
•
•
|
Publication |
First Author: |
Cho KI |
Year: |
2006 |
Journal: |
Comp Med |
Title: |
The circling mouse (C57BL/6J-cir) has a 40-kilobase genomic deletion that includes the transmembrane inner ear (tmie) gene. |
Volume: |
56 |
Issue: |
6 |
Pages: |
476-81 |
|
•
•
•
•
•
|
Allele |
Name: |
alsin Rho guanine nucleotide exchange factor; targeted mutation 1, Joh-E Ikeda |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
alsin Rho guanine nucleotide exchange factor; targeted mutation 1, Huaibin Cai |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout, Reporter |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Als2/Als2 |
Background: |
involves: 129P2/OlaHsd * C57BL/6J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation |
|
•
•
•
•
•
|
Allele |
Name: |
alsin Rho guanine nucleotide exchange factor; targeted mutation 1, Guy A Rouleau |
Allele Type: |
Targeted |
Attribute String: |
Modified isoform(s) |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion IP127, GENSAT Project at Rockefeller University |
Allele Type: |
Transgenic |
Attribute String: |
Reporter |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Als2/Als2 |
Background: |
involves: 129X1/SvJ * C57BL/6J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, transgenic |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Als2/Als2 |
Background: |
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Als2/Als2<+> |
Background: |
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Fulcoli FG |
Year: |
2016 |
Journal: |
Nat Commun |
Title: |
Rebalancing gene haploinsufficiency in vivo by targeting chromatin. |
Volume: |
7 |
|
Pages: |
11688 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
Rab proteins form a family of signal-transducing GTPases that cycle betweenactive GTP-bound and inactive GDP-bound forms. The Rab5 GTPase is an essentialregulator of endocytosis and endosome biogenesis. Rab5 is activated by GDP-GTPexchange factors (GEFs) that contain a VPS9 domain and generate the Rab5-GTPcomplex []. The VPS9 domain catalyzes nucleotide exchange on Rab5 or theyeast homologue VPS21. The domain has a length of ~140 residues and forms thecentral part of the yeast VPS9 (vacuolar protein sorting-associated) protein,which acts as a GEF for VPS21. Some domains which canoccur in combinationwith the VPS9 domain are CUE, A20-type zinc finger, Ras-associating (RA), SH2,RCC1, DH, PH, rasGAP, MORN and ankyrin repeat.Structurally, the VPS9 domain adopts a layered fold of six alpha helices. Conserved residues from the fourth and sixth helices and theloops N-terminal to these helices form the surface that interacts with Rab5and Rab21 [].Some proteins known to contain a VPS9 domain:Fungal Vacuolar Protein Sorting-associated protein VPS9, a guaninenucleotide exchange factor for the Rab-like GTPase VPS21. VPS9 is neededfor the transport of proteins from biosynthetic and endocytic pathways intothe vacuole.Mammalian Rab5 GDP/GTP exchange factor or Rabex-5 (Rababtin-5 associatedexchange factor for Rab5), catalyzes nucleotide exchange on RAB5A. Rabex-5promotes endocytic membrane fusion and is involved in membrane traffickingof recycling endosomes.Mammalian Ras and Rab interactor 1 (RIN1), 2 (RIN2) and 3 (RIN3).Mammalian alsin or Amyotrophic Lateral Sclerosis protein 2 (ALS2).Different juvenile-onset forms of neurodegenerative diseases (ALS2, JPLS,IAHSP) are caused by mutations in the ALS2 gene, which result in truncatedalsin lacking the C-terminal part of the VPS9 domain.Fruit fly protein sprint, which is a RIN homologue.Caenorhabditis elegans RME-6 protein, which is conserved among metazoans. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
388
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
377
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Delprato A |
Year: |
2004 |
Journal: |
Cell |
Title: |
Structure, exchange determinants, and family-wide rab specificity of the tandem helical bundle and Vps9 domains of Rabex-5. |
Volume: |
118 |
Issue: |
5 |
Pages: |
607-17 |
|
•
•
•
•
•
|
Publication |
First Author: |
Carney DS |
Year: |
2006 |
Journal: |
Trends Cell Biol |
Title: |
Vps9 domain-containing proteins: activators of Rab5 GTPases from yeast to neurons. |
Volume: |
16 |
Issue: |
1 |
Pages: |
27-35 |
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki N |
Year: |
2004 |
Journal: |
DNA Res |
Title: |
Prediction of the coding sequences of mouse homologues of FLJ genes: the complete nucleotide sequences of 110 mouse FLJ-homologous cDnas identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. |
Volume: |
11 |
Issue: |
2 |
Pages: |
127-35 |
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•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
649
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
279
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
117
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
193
 |
Fragment?: |
true |
|
•
•
•
•
•
|