Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Kowalczyk MS |
Year: |
2012 |
Journal: |
Mamm Genome |
Title: |
Nprl3 is required for normal development of the cardiovascular system. |
Volume: |
23 |
Issue: |
7-8 |
Pages: |
404-15 |
|
•
•
•
•
•
|
Publication |
First Author: |
Anguita E |
Year: |
2002 |
Journal: |
Blood |
Title: |
Deletion of the mouse alpha-globin regulatory element (HS -26) has an unexpectedly mild phenotype. |
Volume: |
100 |
Issue: |
10 |
Pages: |
3450-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ishida S |
Year: |
2022 |
Journal: |
Hum Mol Genet |
Title: |
Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy. |
Volume: |
31 |
Issue: |
9 |
Pages: |
1519-1530 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kowalczyk MS |
Year: |
2012 |
Journal: |
Mol Cell |
Title: |
Intragenic enhancers act as alternative promoters. |
Volume: |
45 |
Issue: |
4 |
Pages: |
447-58 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gourdon G |
Year: |
1995 |
Journal: |
Blood |
Title: |
The mouse alpha-globin locus regulatory element. |
Volume: |
86 |
Issue: |
2 |
Pages: |
766-75 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3801337 |
Assay Type: |
Northern blot |
Annotation Date: |
2008-08-13 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603910 |
|
Stage: |
TS10 |
Assay Id: |
MGI:3801478 |
Age: |
embryonic day 7.0 |
|
|
Specimen Label: |
7-days |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3801337 |
Assay Type: |
Northern blot |
Annotation Date: |
2008-08-13 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603918 |
|
Stage: |
TS18 |
Assay Id: |
MGI:3801478 |
Age: |
embryonic day 11.0 |
|
|
Specimen Label: |
11-days |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3801337 |
Assay Type: |
Northern blot |
Annotation Date: |
2008-08-13 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603923 |
|
Stage: |
TS23 |
Assay Id: |
MGI:3801478 |
Age: |
embryonic day 15.0 |
|
|
Specimen Label: |
15-days |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3801337 |
Assay Type: |
Northern blot |
Annotation Date: |
2008-08-13 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603925 |
|
Stage: |
TS25 |
Assay Id: |
MGI:3801478 |
Age: |
embryonic day 17.0 |
|
|
Specimen Label: |
17-days |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3801337 |
Assay Type: |
Northern blot |
Annotation Date: |
2008-08-13 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610528 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3801478 |
Age: |
postnatal adult |
|
|
Specimen Label: |
Heart |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3801337 |
Assay Type: |
Northern blot |
Annotation Date: |
2008-08-13 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689428 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3801478 |
Age: |
postnatal adult |
|
|
Specimen Label: |
Brain |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3801337 |
Assay Type: |
Northern blot |
Annotation Date: |
2008-08-13 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1876728 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3801478 |
Age: |
postnatal adult |
|
|
Specimen Label: |
Spleen |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3801337 |
Assay Type: |
Northern blot |
Annotation Date: |
2008-08-13 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1672828 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3801478 |
Age: |
postnatal adult |
|
|
Specimen Label: |
Lung |
Detected: |
true |
Specimen Num: |
9 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3801337 |
Assay Type: |
Northern blot |
Annotation Date: |
2008-08-13 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1684628 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3801478 |
Age: |
postnatal adult |
|
|
Specimen Label: |
Liver |
Detected: |
true |
Specimen Num: |
10 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3801337 |
Assay Type: |
Northern blot |
Annotation Date: |
2008-08-13 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3598828 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3801478 |
Age: |
postnatal adult |
|
|
Specimen Label: |
Muscle |
Detected: |
true |
Specimen Num: |
11 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3801337 |
Assay Type: |
Northern blot |
Annotation Date: |
2008-08-13 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1737328 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3801478 |
Age: |
postnatal adult |
|
|
Specimen Label: |
Kidney |
Detected: |
true |
Specimen Num: |
12 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3801337 |
Assay Type: |
Northern blot |
Annotation Date: |
2008-08-13 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1797228 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3801478 |
Age: |
postnatal adult |
|
|
Specimen Label: |
Testis |
Detected: |
true |
Specimen Num: |
13 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kielman MF |
Year: |
1996 |
Journal: |
Mamm Genome |
Title: |
Characterization and localization of the mProx1 gene directly upstream of the mouse alpha-globin gene cluster: identification of a polymorphic direct repeat in the 5'UTR. |
Volume: |
7 |
Issue: |
12 |
Pages: |
877-80 |
|
•
•
•
•
•
|
Publication |
First Author: |
Popp RA |
Year: |
1960 |
Journal: |
J Hered |
Title: |
Studies on the mouse hemoglobin locus. I. Identification of hemoglobin types and linkage of hemoglobin with albinism. |
Volume: |
51 |
Issue: |
3 |
Pages: |
141-144 |
|
•
•
•
•
•
|
Publication |
First Author: |
Loyd MR |
Year: |
2003 |
Journal: |
Blood |
Title: |
Role of AP1/NFE2 binding sites in endogenous alpha-globin gene transcription. |
Volume: |
102 |
Issue: |
12 |
Pages: |
4223-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhao QZ |
Year: |
1996 |
Journal: |
Mamm Genome |
Title: |
Cloning and characterization of the mouse alpha globin cluster and a new hypervariable marker. |
Volume: |
7 |
Issue: |
10 |
Pages: |
749-53 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fu XH |
Year: |
2005 |
Journal: |
Exp Cell Res |
Title: |
A conserved, extended chromatin opening within alpha-globin locus during development. |
Volume: |
309 |
Issue: |
1 |
Pages: |
174-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kielman MF |
Year: |
1996 |
Journal: |
Genomics |
Title: |
Characterization and comparison of the human and mouse Dist1/alpha-globin complex reveals a tightly packed multiple gene cluster containing differentially expressed transcription units. |
Volume: |
32 |
Issue: |
3 |
Pages: |
341-51 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jiang C |
Year: |
2023 |
Journal: |
Mol Cell |
Title: |
Ring domains are essential for GATOR2-dependent mTORC1 activation. |
Volume: |
83 |
Issue: |
1 |
Pages: |
74-89.e9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Haque K |
Year: |
2016 |
Journal: |
J Neurosci |
Title: |
MEKK4 Signaling Regulates Sensory Cell Development and Function in the Mouse Inner Ear. |
Volume: |
36 |
Issue: |
4 |
Pages: |
1347-61 |
|
•
•
•
•
•
|
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: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
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: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
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: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
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: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
UniProt Feature |
Begin: |
1 |
Description: |
GATOR complex protein NPRL3 |
Type: |
chain |
End: |
569 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
569
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
80
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
58
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
182
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
77
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
491
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
544
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
582
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
69
 |
Fragment?: |
false |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Allele |
Name: |
regulatory region 348; targeted mutation 1.1, Douglas R Higgs |
Allele Type: |
Targeted |
Attribute String: |
Modified regulatory region |
|
•
•
•
•
•
|
Allele |
Name: |
regulatory region 352; targeted mutation 1.1, Douglas R Higgs |
Allele Type: |
Targeted |
Attribute String: |
Modified regulatory region |
|
•
•
•
•
•
|
Allele |
Name: |
regulatory region 351; targeted mutation 3.1, Douglas R Higgs |
Allele Type: |
Targeted |
Attribute String: |
Modified regulatory region |
|
•
•
•
•
•
|
Allele |
Name: |
regulatory region 353; targeted mutation 1.1, Douglas R Higgs |
Allele Type: |
Targeted |
Attribute String: |
Modified regulatory region |
|
•
•
•
•
•
|
Allele |
Name: |
regulatory region 351; targeted mutation 3, Douglas R Higgs |
Allele Type: |
Targeted |
Attribute String: |
Modified regulatory region |
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Publication |
First Author: |
Flint J |
Year: |
2001 |
Journal: |
Hum Mol Genet |
Title: |
Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the alpha globin cluster. |
Volume: |
10 |
Issue: |
4 |
Pages: |
371-82 |
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Allele |
Name: |
regulatory region 349; targeted mutation 1, William G Wood |
Allele Type: |
Targeted |
Attribute String: |
Modified regulatory region |
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Allele |
Name: |
regulatory region 349; targeted mutation 1.1, William G Wood |
Allele Type: |
Targeted |
Attribute String: |
Modified regulatory region |
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Allele |
Name: |
nitrogen permease regulator-like 3; targeted mutation 1.1, Douglas R Higgs |
Allele Type: |
Targeted |
Attribute String: |
Hypomorph, Modified regulatory region |
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Genotype |
Symbol: |
Rr349/Rr349<+> |
Background: |
involves: 129P2/OlaHsd |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Rr349/Rr349 |
Background: |
involves: 129P2/OlaHsd |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Rr349/Rr349<+> |
Background: |
involves: 129P2/OlaHsd * CD-1 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Rr349/Rr349 |
Background: |
involves: 129P2/OlaHsd * CD-1 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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