Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:3724961 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:2672022 |
Pattern: |
Regionally restricted |
Stage: |
TS22 |
Assay Id: |
MGI:5421612 |
Age: |
embryonic day 14.5 |
Image: |
MH1613; Specimen C1117 |
Note: |
Expression was weak in whisker follicle. |
Specimen Label: |
MH1613; Specimen C1117 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
Publication |
First Author: |
Meixner A |
Year: |
2010 |
Journal: |
Cell Death Differ |
Title: |
Jun and JunD-dependent functions in cell proliferation and stress response. |
Volume: |
17 |
Issue: |
9 |
Pages: |
1409-19 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nedomova M |
Year: |
2024 |
Journal: |
iScience |
Title: |
DDI2 protease controls embryonic development and inflammation via TCF11/NRF1. |
Volume: |
27 |
Issue: |
10 |
Pages: |
110893 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ehringer MA |
Year: |
2001 |
Journal: |
Mamm Genome |
Title: |
High-throughput sequence identification of gene coding variants within alcohol-related QTLs. |
Volume: |
12 |
Issue: |
8 |
Pages: |
657-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Celaya AM |
Year: |
2019 |
Journal: |
Elife |
Title: |
Deficit of mitogen-activated protein kinase phosphatase 1 (DUSP1) accelerates progressive hearing loss. |
Volume: |
8 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wu Y |
Year: |
2016 |
Journal: |
PLoS Genet |
Title: |
Mtu1-Mediated Thiouridine Formation of Mitochondrial tRNAs Is Required for Mitochondrial Translation and Is Involved in Reversible Infantile Liver Injury. |
Volume: |
12 |
Issue: |
9 |
Pages: |
e1006355 |
|
•
•
•
•
•
|
Publication |
First Author: |
NIH Mouse Knockout Inventory |
Year: |
2004 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the NIH Mouse Knockout Inventory |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniPathway vocabulary mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Mouse Synonym Curation |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Visel A |
Year: |
2004 |
Journal: |
Nucleic Acids Res |
Title: |
GenePaint.org: an atlas of gene expression patterns in the mouse embryo. |
Volume: |
32 |
Issue: |
Database issue |
Pages: |
D552-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lennon G |
Year: |
1999 |
Journal: |
Database Download |
Title: |
WashU-HHMI Mouse EST Project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GUDMAP Consortium |
Year: |
2004 |
Journal: |
www.gudmap.org |
Title: |
GUDMAP: the GenitoUrinary Development Molecular Anatomy Project |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
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) |
|
|
|
|
•
•
•
•
•
|
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: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
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: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
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 Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
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: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
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: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
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: |
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 Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
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 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 |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
Nazor KE |
Year: |
2005 |
Journal: |
EMBO J |
Title: |
Immunodetection of disease-associated mutant PrP, which accelerates disease in GSS transgenic mice. |
Volume: |
24 |
Issue: |
13 |
Pages: |
2472-80 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mercer RCC |
Year: |
2018 |
Journal: |
PLoS Pathog |
Title: |
A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles. |
Volume: |
14 |
Issue: |
1 |
Pages: |
e1006826 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kwong M |
Year: |
1999 |
Journal: |
J Biol Chem |
Title: |
The CNC basic leucine zipper factor, Nrf1, is essential for cell survival in response to oxidative stress-inducing agents. Role for Nrf1 in gamma-gcs(l) and gss expression in mouse fibroblasts. |
Volume: |
274 |
Issue: |
52 |
Pages: |
37491-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yu M |
Year: |
2025 |
Journal: |
Leukemia |
Title: |
The BIM deletion polymorphism potentiates the survival of leukemia stem and progenitor cells and impairs response to targeted therapies. |
Volume: |
39 |
Issue: |
1 |
Pages: |
134-143 |
|
•
•
•
•
•
|
Allele |
Name: |
3-hydroxy-3-methylglutaryl-Coenzyme A reductase; gene trap A005H04, German Gene Trap Consortium |
Allele Type: |
Gene trapped |
|
|
•
•
•
•
•
|
Interaction Term |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, gene trap, mutant strain |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Publication |
First Author: |
Niibori-Nambu A |
Year: |
2024 |
Journal: |
Gene |
Title: |
Integrin-α9 overexpression underlies the niche-independent maintenance of leukemia stem cells in acute myeloid leukemia. |
Volume: |
928 |
|
Pages: |
148761 |
|
•
•
•
•
•
|
Publication |
First Author: |
Dahl N |
Year: |
1997 |
Journal: |
Hum Mol Genet |
Title: |
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. |
Volume: |
6 |
Issue: |
7 |
Pages: |
1147-52 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Homologous_superfamily |
Description: |
This superfamily represents an α-helical domain found in glutathione synthetase () (GSS), a homodimeric enzyme that catalyses the conversion of gamma-L-glutamyl-L-cysteine and glycine to phosphate and glutathione in the presence of ATP. This is the second step in glutathione biosynthesis, the first step being catalysed by gamma-glutamylcysteine synthetase []. In humans, defects in GSS are inherited in an autosomal recessive way and are the cause of severe metabolic acidosis, 5-oxoprolinuria, and increased rate of haemolysis and defective function of the central nervous system. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This entry represents glutathione synthetase () (GSH-S), a homodimeric enzyme that catalyses the conversion of gamma-L-glutamyl-L-cysteine and glycine to phosphate and glutathione in the presence of ATP. This is the second step in glutathione biosynthesis, the first step being catalysed by gamma-glutamylcysteine synthetase []. In humans, defects in GSS are inherited in an autosomal recessive way and are the cause of severe metabolic acidosis, 5-oxoprolinuria, and increased rate of haemolysis and defective function of the central nervous system []. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
474
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
474
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
474
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
473
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
405
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Njålsson R |
Year: |
2005 |
Journal: |
Acta Paediatr |
Title: |
Physiological and pathological aspects of GSH metabolism. |
Volume: |
94 |
Issue: |
2 |
Pages: |
132-7 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
216
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Homologous_superfamily |
Description: |
This superfamily represents the N-terminal domain found in eukaryotic glutathione synthetase () (GSS), a homodimeric enzyme that catalyses the conversion of gamma-L-glutamyl-L-cysteine and glycine to phosphate and glutathione in the presence of ATP. This is the second step in glutathione biosynthesis, the first step being catalysed by gamma-glutamylcysteine synthetase []. In humans, defects in GSS are inherited in an autosomal recessive way and are the cause of severe metabolic acidosis, 5-oxoprolinuria, and increased rate of haemolysis and defective function of the central nervous system. The N-terminal domain has a 2-layer alpha/beta structure. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This entry represents the substrate-binding domain of glutathione synthetase () (GSS), a homodimeric enzyme that catalyses the conversion of gamma-L-glutamyl-L-cysteine and glycine to phosphate and glutathione in the presence of ATP. This is the second step in glutathione biosynthesis, the first step being catalysed by gamma-glutamylcysteine synthetase []. In humans, defects in GSS are inherited in an autosomal recessive way and are the cause of severe metabolic acidosis, 5-oxoprolinuria, and increased rate of haemolysis and defective function of the central nervous system. The substrate-binding domain has a 3-layer α/β/α structure []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Homologous_superfamily |
Description: |
This superfamily represents the C-terminal domain found in eukaryotic glutathione synthetase () (GSS), a homodimeric enzyme that catalyses the conversion of gamma-L-glutamyl-L-cysteine and glycine to phosphate and glutathione in the presence of ATP. This is the second step in glutathione biosynthesis, the first step being catalysed by gamma-glutamylcysteine synthetase []. In humans, defects in GSS are inherited in an autosomal recessive way and are the cause of severe metabolic acidosis, 5-oxoprolinuria, and increased rate of haemolysis and defective function of the central nervous system.This domain has a 2-layer alpha/beta structure. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Homologous_superfamily |
Description: |
This superfamily represents the substrate-binding domain of glutathione synthetase () (GSS), a homodimeric enzyme that catalyses the conversion of gamma-L-glutamyl-L-cysteine and glycine to phosphate and glutathione in the presence of ATP. This is the second step in glutathione biosynthesis, the first step being catalysed by gamma-glutamylcysteine synthetase []. In humans, defects in GSS are inherited in an autosomal recessive way and are the cause of severe metabolic acidosis, 5-oxoprolinuria, and increased rate of haemolysis and defective function of the central nervous system. The substrate-binding domain has a 3-layer alpha/beta/alpha structure []. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
60
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
179
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Polekhina G |
Year: |
1999 |
Journal: |
EMBO J |
Title: |
Molecular basis of glutathione synthetase deficiency and a rare gene permutation event. |
Volume: |
18 |
Issue: |
12 |
Pages: |
3204-13 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
200
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Nazor KE |
Year: |
2007 |
Journal: |
Biochim Biophys Acta |
Title: |
Motor behavioral and neuropathological deficits in mice deficient for normal prion protein expression. |
Volume: |
1772 |
Issue: |
6 |
Pages: |
645-53 |
|
•
•
•
•
•
|
Publication |
First Author: |
Manson JC |
Year: |
1999 |
Journal: |
EMBO J |
Title: |
A single amino acid alteration (101L) introduced into murine PrP dramatically alters incubation time of transmissible spongiform encephalopathy. |
Volume: |
18 |
Issue: |
23 |
Pages: |
6855-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
Stöhr J |
Year: |
2011 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Spontaneous generation of anchorless prions in transgenic mice. |
Volume: |
108 |
Issue: |
52 |
Pages: |
21223-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Andres-Alonso M |
Year: |
2023 |
Journal: |
Cell Rep |
Title: |
Golgi satellites are essential for polysialylation of NCAM and expression of LTP at distal synapses. |
Volume: |
42 |
Issue: |
7 |
Pages: |
112692 |
|
•
•
•
•
•
|
Publication |
First Author: |
Telling GC |
Year: |
1996 |
Journal: |
Genes Dev |
Title: |
Interactions between wild-type and mutant prion proteins modulate neurodegeneration in transgenic mice. |
Volume: |
10 |
Issue: |
14 |
Pages: |
1736-50 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yang W |
Year: |
2009 |
Journal: |
J Neurosci |
Title: |
A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP. |
Volume: |
29 |
Issue: |
32 |
Pages: |
10072-80 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cortes CJ |
Year: |
2012 |
Journal: |
J Neurosci |
Title: |
Rapamycin delays disease onset and prevents PrP plaque deposition in a mouse model of Gerstmann-Sträussler-Scheinker disease. |
Volume: |
32 |
Issue: |
36 |
Pages: |
12396-405 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zanusso G |
Year: |
2014 |
Journal: |
J Biol Chem |
Title: |
Gerstmann-Sträussler-Scheinker disease and "anchorless prion protein" mice share prion conformational properties diverging from sporadic Creutzfeldt-Jakob disease. |
Volume: |
289 |
Issue: |
8 |
Pages: |
4870-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Asante EA |
Year: |
2013 |
Journal: |
PLoS Pathog |
Title: |
Inherited prion disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein. |
Volume: |
9 |
Issue: |
9 |
Pages: |
e1003643 |
|
•
•
•
•
•
|
Publication |
First Author: |
Safar JG |
Year: |
2011 |
Journal: |
Lab Invest |
Title: |
Conserved properties of human and bovine prion strains on transmission to guinea pigs. |
Volume: |
91 |
Issue: |
9 |
Pages: |
1326-36 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tremblay P |
Year: |
2004 |
Journal: |
J Virol |
Title: |
Mutant PrPSc conformers induced by a synthetic peptide and several prion strains. |
Volume: |
78 |
Issue: |
4 |
Pages: |
2088-99 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen J |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. |
Volume: |
100 |
Issue: |
17 |
Pages: |
9918-22 |
|
•
•
•
•
•
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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 |
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