Type |
Details |
Score |
Publication |
First Author: |
Hammock EA |
Year: |
2010 |
Journal: |
Neural Dev |
Title: |
Homologs of genes expressed in Caenorhabditis elegans GABAergic neurons are also found in the developing mouse forebrain. |
Volume: |
5 |
|
Pages: |
32 |
|
•
•
•
•
•
|
Publication |
First Author: |
Corbo JC |
Year: |
2005 |
Journal: |
PLoS Genet |
Title: |
A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. |
Volume: |
1 |
Issue: |
2 |
Pages: |
e11 |
|
•
•
•
•
•
|
Publication |
First Author: |
Roepman R |
Year: |
2005 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. |
Volume: |
102 |
Issue: |
51 |
Pages: |
18520-5 |
|
•
•
•
•
•
|
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: |
Blackshaw S |
Year: |
2004 |
Journal: |
PLoS Biol |
Title: |
Genomic analysis of mouse retinal development. |
Volume: |
2 |
Issue: |
9 |
Pages: |
E247 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
RIKEN Data Curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Lennon G |
Year: |
1999 |
Journal: |
Database Download |
Title: |
WashU-HHMI Mouse EST Project |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
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: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
Arts HH |
Year: |
2007 |
Journal: |
Nat Genet |
Title: |
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. |
Volume: |
39 |
Issue: |
7 |
Pages: |
882-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Castagnet P |
Year: |
2003 |
Journal: |
Hum Mol Genet |
Title: |
RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons. |
Volume: |
12 |
Issue: |
15 |
Pages: |
1847-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Devuyst O |
Year: |
2008 |
Journal: |
Nephrol Dial Transplant |
Title: |
Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies. |
Volume: |
23 |
Issue: |
5 |
Pages: |
1500-3 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
RPGR-interacting protein 1 (RPGRIP1) is mutated in the eye disease Leber congenital amaurosis (LCA) and its structural homologue, RPGRIP1-like (RPGRIP1L, also called NPHP8 or fantom), is mutated in many different ciliopathies [, ]. Both are multidomain proteins that are predicted to interact with retinitis pigmentosa G-protein regulator (RPGR) []. Both consist of an N-terminal coiled coil domain, two C2 domains (C2N and C2C), and a C-terminal RPGR-interacting domain (RID). RID is a C2 domain with a canonical beta sandwich structure that does not bind Ca2+ and/or phospholipids and thus constitutes a unique type of protein-protein interaction module [].Both RPGRIP1 and RPGRIP1L interact with the ciliary transition zone protein nephrocystin 4 (NPHP4) via their C2C domain [, ]. An hypothesis is that RPGRIP1 and RPGRIP1L function as cilium-specific scaffolds that recruit a Nek4 signaling network which regulates cilium stability []. The expression of RPGRIP1 seems to be limited to photoreceptors and amacrine cells in the retina [], whereas RPGRIP1L is found in other tissues as well. |
|
•
•
•
•
•
|
Publication |
First Author: |
Remans K |
Year: |
2014 |
Journal: |
Cell Rep |
Title: |
C2 domains as protein-protein interaction modules in the ciliary transition zone. |
Volume: |
8 |
Issue: |
1 |
Pages: |
1-9 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
211
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
78
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
77
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Delous M |
Year: |
2007 |
Journal: |
Nat Genet |
Title: |
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. |
Volume: |
39 |
Issue: |
7 |
Pages: |
875-81 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
253
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
retinal degeneration 25 |
Allele Type: |
Spontaneous |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1264
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, spontaneous mutation |
|
•
•
•
•
•
|
Publication |
First Author: |
Chang B |
Year: |
2024 |
Journal: |
MGI Direct Data Submission |
Title: |
The retinal degeneration 25 (rd25) mutation. |
|
|
|
|
•
•
•
•
•
|
Genotype |
Symbol: |
rd25/rd25 |
Background: |
B6.Cg-rd25/BocJ |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
retinitis pigmentosa GTPase regulator interacting protein 1; targeted mutation 1, Tiansen Li |
Allele Type: |
Targeted |
Attribute String: |
Modified isoform(s), Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
retinitis pigmentosa GTPase regulator interacting protein 1; neuroscience mutagenesis facility, 247 |
Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
Allele |
Name: |
retinitis pigmentosa GTPase regulator interacting protein 1; translational research vision model 111 |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Rpgrip1/Rpgrip1 |
Background: |
involves: 129S4/SvJae * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Rpgrip1/Rpgrip1 |
Background: |
C57BL/6J-Rpgrip1 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Rpgrip1/Rpgrip1 |
Background: |
C57BL/6J-Rpgrip1/Pjn |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This is the C-terminal domain of retinitis pigmentosa G-protein regulator (RPGR) interacting protein-1 (RPGRIP1) present in Homo sapiens. A mutation in RPGRIP1 can be observed in the eye disease Leber congenital amaurosis. The domain is commonly known as the RPGR-interacting domain (RID) and is thought to have a C2-like fold []. |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, mutant strain, congenic |
|
•
•
•
•
•
|
Publication |
First Author: |
Brunner S |
Year: |
2010 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. |
Volume: |
51 |
Issue: |
2 |
Pages: |
1106-15 |
|
•
•
•
•
•
|
Publication |
First Author: |
Moore DF |
Year: |
2007 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach. |
Volume: |
104 |
Issue: |
19 |
Pages: |
8065-70 |
|
•
•
•
•
•
|
Publication |
First Author: |
Eblimit A |
Year: |
2018 |
Journal: |
Exp Eye Res |
Title: |
Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice. |
Volume: |
166 |
|
Pages: |
120-130 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pinho-Ribeiro FA |
Year: |
2023 |
Journal: |
Nature |
Title: |
Bacteria hijack a meningeal neuroimmune axis to facilitate brain invasion. |
Volume: |
615 |
Issue: |
7952 |
Pages: |
472-481 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gerhard DS |
Year: |
2004 |
Journal: |
Genome Res |
Title: |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
Volume: |
14 |
Issue: |
10B |
Pages: |
2121-7 |
|
•
•
•
•
•
|