| Type |
Details |
Score |
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
dog, domestic |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chimpanzee |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
cattle |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chicken |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
frog, western clawed |
|
•
•
•
•
•
|
| Gene |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Liu Q |
| Year: |
2012 |
| Journal: |
PLoS One |
| Title: |
Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. |
| Volume: |
7 |
| Issue: |
8 |
| Pages: |
e43251 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Yamashita T |
| Year: |
2009 |
| Journal: |
J Neurosci |
| Title: |
Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. |
| Volume: |
29 |
| Issue: |
31 |
| Pages: |
9748-60 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Song D |
| Year: |
2014 |
| Journal: |
Am J Pathol |
| Title: |
A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. |
| Volume: |
184 |
| Issue: |
10 |
| Pages: |
2721-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Liu Q |
| Year: |
2003 |
| Journal: |
Invest Ophthalmol Vis Sci |
| Title: |
RP1 is required for the correct stacking of outer segment discs. |
| Volume: |
44 |
| Issue: |
10 |
| Pages: |
4171-83 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Liu J |
| Year: |
2005 |
| Journal: |
Hum Mol Genet |
| Title: |
Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations. |
| Volume: |
14 |
| Issue: |
19 |
| Pages: |
2945-58 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Liu Q |
| Year: |
2002 |
| Journal: |
Invest Ophthalmol Vis Sci |
| Title: |
Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. |
| Volume: |
43 |
| Issue: |
1 |
| Pages: |
22-32 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Guillonneau X |
| Year: |
1999 |
| Journal: |
Hum Mol Genet |
| Title: |
A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. |
| Volume: |
8 |
| Issue: |
8 |
| Pages: |
1541-6 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gao J |
| Year: |
2002 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. |
| Volume: |
99 |
| Issue: |
8 |
| Pages: |
5698-703 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Liu Q |
| Year: |
2004 |
| Journal: |
J Neurosci |
| Title: |
The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. |
| Volume: |
24 |
| Issue: |
29 |
| Pages: |
6427-36 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Liu Q |
| Year: |
2009 |
| Journal: |
Invest Ophthalmol Vis Sci |
| Title: |
The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background. |
| Volume: |
50 |
| Issue: |
4 |
| Pages: |
1566-74 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Coquelle FM |
| Year: |
2006 |
| Journal: |
Cell Cycle |
| Title: |
Common and divergent roles for members of the mouse DCX superfamily. |
| Volume: |
5 |
| Issue: |
9 |
| Pages: |
976-83 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Reiner O |
| Year: |
2006 |
| Journal: |
BMC Genomics |
| Title: |
The evolving doublecortin (DCX) superfamily. |
| Volume: |
7 |
|
| Pages: |
188 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Omori Y |
| Year: |
2010 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. |
| Volume: |
107 |
| Issue: |
52 |
| Pages: |
22671-6 |
|
•
•
•
•
•
|
| 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: |
Pierce EA |
| Year: |
1999 |
| Journal: |
Nat Genet |
| Title: |
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. |
| Volume: |
22 |
| Issue: |
3 |
| Pages: |
248-54 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:6888130 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2022-03-16 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1619828 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:6888230 |
| Age: |
postnatal |
|
|
| Specimen Label: |
WT |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:6888130 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2022-03-16 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1619828 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:6888230 |
| Age: |
postnatal |
|
|
| Specimen Label: |
RP18m |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:7781907 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2024-11-21 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1716828 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:7782413 |
| Age: |
postnatal day 28 |
| Image: |
5 |
|
| Specimen Label: |
wild type |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:7781907 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2024-11-21 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1716828 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:7782413 |
| Age: |
postnatal day 28 |
| Image: |
5 |
|
| Specimen Label: |
Rorb-/- |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5751149 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2016-03-04 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3568828 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:5751152 |
| Age: |
postnatal day 12 |
| Image: |
1C Ahi1+/+ |
| Note: |
Expression is in axonemes. |
| Specimen Label: |
1C Ahi1+/+ |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Davidson AE |
| Year: |
2013 |
| Journal: |
Hum Mutat |
| Title: |
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. |
| Volume: |
34 |
| Issue: |
3 |
| Pages: |
506-14 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Karlstetter M |
| Year: |
2014 |
| Journal: |
Hum Mol Genet |
| Title: |
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. |
| Volume: |
23 |
| Issue: |
19 |
| Pages: |
5197-210 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Zhao Y |
| Year: |
2003 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis. |
| Volume: |
100 |
| Issue: |
7 |
| Pages: |
3965-70 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sedmak T |
| Year: |
2010 |
| Journal: |
J Cell Biol |
| Title: |
Intraflagellar transport molecules in ciliary and nonciliary cells of the retina. |
| Volume: |
189 |
| Issue: |
1 |
| Pages: |
171-86 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Dharmat R |
| Year: |
2018 |
| Journal: |
J Cell Biol |
| Title: |
SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. |
| Volume: |
217 |
| Issue: |
8 |
| Pages: |
2851-2865 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Westfall JE |
| Year: |
2010 |
| Journal: |
J Neurosci |
| Title: |
Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. |
| Volume: |
30 |
| Issue: |
26 |
| Pages: |
8759-68 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Langouët M |
| Year: |
2022 |
| Journal: |
Sci Adv |
| Title: |
Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration. |
| Volume: |
8 |
| Issue: |
36 |
| Pages: |
eabh2868 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Collin GB |
| Year: |
2020 |
| Journal: |
Sci Rep |
| Title: |
Disruption in murine Eml1 perturbs retinal lamination during early development. |
| Volume: |
10 |
| Issue: |
1 |
| Pages: |
5647 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Cao H |
| Year: |
2011 |
| Journal: |
PLoS One |
| Title: |
Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP. |
| Volume: |
6 |
| Issue: |
1 |
| Pages: |
e15860 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Yu J |
| Year: |
2003 |
| Journal: |
Genome Biol |
| Title: |
Annotation and analysis of 10,000 expressed sequence tags from developing mouse eye and adult retina. |
| Volume: |
4 |
| Issue: |
10 |
| Pages: |
R65 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Geller SF |
| Year: |
2009 |
| Journal: |
PLoS Genet |
| Title: |
CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development. |
| Volume: |
5 |
| Issue: |
8 |
| Pages: |
e1000607 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Jia L |
| Year: |
2009 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor development. |
| Volume: |
106 |
| Issue: |
41 |
| Pages: |
17534-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Pan M |
| Year: |
2020 |
| Journal: |
Autophagy |
| Title: |
Mice deficient in UXT exhibit retinitis pigmentosa-like features via aberrant autophagy activation. |
|
|
| Pages: |
1-16 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Won J |
| Year: |
2011 |
| Journal: |
J Ophthalmol |
| Title: |
Mouse model resources for vision research. |
| Volume: |
2011 |
|
| Pages: |
391384 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Goetz JJ |
| Year: |
2016 |
| Journal: |
PLoS One |
| Title: |
Polo-Like Kinase 3 Appears Dispensable for Normal Retinal Development Despite Robust Embryonic Expression. |
| Volume: |
11 |
| Issue: |
3 |
| Pages: |
e0150878 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
987
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| 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: |
Collin GB |
| Year: |
2020 |
| Journal: |
Cells |
| Title: |
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. |
| Volume: |
9 |
| Issue: |
4 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Mouse Synonym Curation |
|
|
|
|
•
•
•
•
•
|
| 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: |
DDB, FB, MGI, GOA, ZFIN curators |
| Year: |
2001 |
|
| Title: |
Gene Ontology annotation through association of InterPro records with GO terms |
|
|
|
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
2096
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
MGD Nomenclature Committee |
| Year: |
1995 |
|
| Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
UniProt-GOA |
| Year: |
2012 |
|
| Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
| 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: |
MGI Genome Annotation Group and UniGene Staff |
| Year: |
2015 |
| Journal: |
Database Download |
| Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
| 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 |
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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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| 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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| 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: |
dog, domestic |
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| Gene |
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| Gene |
| Type: |
gene |
| Organism: |
chimpanzee |
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| Gene |
| Type: |
gene |
| Organism: |
macaque, rhesus |
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| Gene |
| Type: |
gene |
| Organism: |
cattle |
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| Gene |
| Type: |
gene |
| Organism: |
zebrafish |
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| Gene |
| Type: |
gene |
| Organism: |
zebrafish |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
254
 |
| Fragment?: |
false |
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| HT Experiment |
| Series Id: |
GSE128 |
| Experiment Type: |
transcription profiling by array |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
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| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
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