| Type |
Details |
Score |
| 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: |
Cyagen Biosciences Inc. |
| Year: |
2022 |
|
| Title: |
Cyagen Biosciences Website. |
|
|
|
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•
•
•
•
•
|
| 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 |
|
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|
•
•
•
•
•
|
| Publication |
| First Author: |
UniProt-GOA |
| Year: |
2012 |
|
| Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
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|
•
•
•
•
•
|
| 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: |
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 |
|
|
|
|
•
•
•
•
•
|
| 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: |
2009 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
frog, African clawed |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
frog, African clawed |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Rachel RA |
| Year: |
2012 |
| Journal: |
Cilia |
| Title: |
Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins. |
| Volume: |
1 |
| Issue: |
1 |
| Pages: |
22 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Patil H |
| Year: |
2012 |
| Journal: |
Cell Death Dis |
| Title: |
Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons. |
| Volume: |
3 |
|
| Pages: |
e355 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Patil H |
| Year: |
2012 |
| Journal: |
Biol Open |
| Title: |
Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms. |
| Volume: |
1 |
| Issue: |
2 |
| Pages: |
140-60 |
|
•
•
•
•
•
|
| Allele |
| Name: |
retinitis pigmentosa GTPase regulator; retinal degeneration 9 |
| Allele Type: |
Spontaneous |
| Attribute String: |
Modified isoform(s) |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Rpgr/? |
| Background: |
C57BL/6-Rpgr |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion mRDef, Rachel Wright |
| Allele Type: |
Transgenic |
| Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Rpgr/Rpgr Tg(CMV-Rpgr)1Tili/? |
| Background: |
involves: 129S4/SvJae * C57BL/6 |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Allele |
| Name: |
retinitis pigmentosa GTPase regulator; targeted mutation 1, Tiansen Li |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout, Reporter |
|
•
•
•
•
•
|
| Interaction Experiment |
| Description: |
Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. |
|
•
•
•
•
•
|
| Transgene |
| Type: |
transgene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(CAG-Rpgr)mRDefWrght/? Rpgr/Rpgr |
| Background: |
involves: 129S4/SvJae * C57BL/6J |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(CAG-Rpgr)mRDefWrght/? |
| Background: |
C57BL/6-Tg(CAG-Rpgr)mRDefWrght |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Rpgr/Rpgr |
| Background: |
involves: 129S4/SvJae * C57BL/6 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Transgene |
| Type: |
transgene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mavlyutov TA |
| Year: |
2002 |
| Journal: |
Hum Mol Genet |
| Title: |
Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. |
| Volume: |
11 |
| Issue: |
16 |
| Pages: |
1899-907 |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Roepman R |
| Year: |
2000 |
| Journal: |
Hum Mol Genet |
| Title: |
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. |
| Volume: |
9 |
| Issue: |
14 |
| Pages: |
2095-105 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Li T |
| Year: |
2014 |
| Journal: |
Cold Spring Harb Perspect Med |
| Title: |
Leber congenital amaurosis caused by mutations in RPGRIP1. |
| Volume: |
5 |
| Issue: |
4 |
|
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
Retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) specifically interacts with retinitis pigmentosa GTPase regulator (RPGR) []. Mutations in RPGR cause X-linked retinitis pigmentosa type 3 (RP3), whereas mutations in RPGRIP1 cause Leber congenital amaurosis (LCA) []. RPGRIP1 is expressed in the retina and is present in the connecting cilium and outer segments of photoreceptors, where it partially co-localises with RPGR [, ]. RPGR isoforms seem to determine the subcellular targeting of RPGRIP1 []. |
|
•
•
•
•
•
|
| GO Term |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion 1, Tiansen Li |
| Allele Type: |
Transgenic |
| Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wang W |
| Year: |
1999 |
| Journal: |
Gene |
| Title: |
Molecular characterization and mapping of canine cGMP-phosphodiesterase delta subunit (PDE6D). |
| Volume: |
236 |
| Issue: |
2 |
| Pages: |
325-32 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Zhang H |
| Year: |
2004 |
| Journal: |
J Biol Chem |
| Title: |
Photoreceptor cGMP phosphodiesterase delta subunit (PDEdelta) functions as a prenyl-binding protein. |
| Volume: |
279 |
| Issue: |
1 |
| Pages: |
407-13 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Day JP |
| Year: |
2008 |
| Journal: |
Biochem J |
| Title: |
Regulation of a Drosophila melanogaster cGMP-specific phosphodiesterase by prenylation and interaction with a prenyl-binding protein. |
| Volume: |
414 |
| Issue: |
3 |
| Pages: |
363-74 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase () is an oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and a delta chain. This protein interacts with RPGR (retinitis pigmentosa GTPase regulator) [], ARL2 (Arf-like-2) and ARL3. This entry represents the delta subunit [], which is thought to act as a prenyl-binding protein []and participates in the transport of PDE6 catalytic alpha/beta subunits []. |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
289
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
191
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
553
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
91
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
spontaneous mutation, mutant strain, coisogenic |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
spontaneous mutation, mutant strain, coisogenic |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(CMV-Rpgr)1Tili/Tg(CMV-Rpgr)1Tili |
| Background: |
involves: C57BL/6 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(CMV-Rpgr)1Tili/? |
| Background: |
involves: C57BL/6 |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Rpgr/Rpgr<+> |
| Background: |
C57BL/6-Rpgr |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Rpgr/Rpgr |
| Background: |
C57BL/6-Rpgr |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
71
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wätzlich D |
| Year: |
2013 |
| Journal: |
EMBO Rep |
| Title: |
The interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargo. |
| Volume: |
14 |
| Issue: |
5 |
| Pages: |
465-72 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
201
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
82
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
295
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mookherjee S |
| Year: |
2015 |
| Journal: |
Hum Mol Genet |
| Title: |
Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. |
| Volume: |
24 |
| Issue: |
22 |
| Pages: |
6446-58 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Lu J |
| Year: |
2022 |
| Journal: |
Sci Rep |
| Title: |
Spata7 is required for maintenance of the retinal connecting cilium. |
| Volume: |
12 |
| Issue: |
1 |
| Pages: |
5575 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Hu S |
| Year: |
2020 |
| Journal: |
Invest Ophthalmol Vis Sci |
| Title: |
In Vivo CRISPR/Cas9-Mediated Genome Editing Mitigates Photoreceptor Degeneration in a Mouse Model of X-Linked Retinitis Pigmentosa. |
| Volume: |
61 |
| Issue: |
4 |
| Pages: |
31 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1331
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1126
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1127
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1320
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Pawlyk BS |
| Year: |
2005 |
| Journal: |
Invest Ophthalmol Vis Sci |
| Title: |
Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. |
| Volume: |
46 |
| Issue: |
9 |
| Pages: |
3039-45 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Jobling AI |
| Year: |
2018 |
| Journal: |
J Neurosci |
| Title: |
The Role of the Microglial Cx3cr1 Pathway in the Postnatal Maturation of Retinal Photoreceptors. |
| Volume: |
38 |
| Issue: |
20 |
| Pages: |
4708-4723 |
|
•
•
•
•
•
|
| 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 |
| Organism: |
Mus musculus/domesticus |
| Length: |
150
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
150
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
150
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|