Type |
Details |
Score |
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1796228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692239 |
Age: |
postnatal adult |
Image: |
UC Davis_1860781 |
|
Specimen Label: |
UC Davis_1860781 |
Detected: |
true |
Specimen Num: |
50 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1796228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692239 |
Age: |
postnatal adult |
Image: |
UC Davis_1860660 |
|
Specimen Label: |
UC Davis_1860660 |
Detected: |
true |
Specimen Num: |
37 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1796228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692239 |
Age: |
postnatal adult |
Image: |
UC Davis_1860661 |
|
Specimen Label: |
UC Davis_1860661 |
Detected: |
true |
Specimen Num: |
38 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1796228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692239 |
Age: |
postnatal adult |
Image: |
UC Davis_1860662 |
|
Specimen Label: |
UC Davis_1860662 |
Detected: |
true |
Specimen Num: |
39 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1796228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692239 |
Age: |
postnatal adult |
Image: |
UC Davis_1860663 |
|
Specimen Label: |
UC Davis_1860663 |
Detected: |
true |
Specimen Num: |
40 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5310359 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1768022 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5423683 |
Age: |
embryonic day 14.5 |
|
Note: |
Expression was not detected in the skull (base and vault). |
Specimen Label: |
EN1189; Specimen N517 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1868228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692239 |
Age: |
postnatal adult |
Image: |
UC Davis_1860773 |
|
Specimen Label: |
UC Davis_1860773 |
Detected: |
true |
Specimen Num: |
133 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1868228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692239 |
Age: |
postnatal adult |
Image: |
UC Davis_1860731 |
|
Specimen Label: |
UC Davis_1860731 |
Detected: |
true |
Specimen Num: |
98 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1868228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692239 |
Age: |
postnatal adult |
Image: |
UC Davis_1860732 |
|
Specimen Label: |
UC Davis_1860732 |
Detected: |
true |
Specimen Num: |
99 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5310359 |
Assay Type: |
RNA in situ |
Annotation Date: |
2012-06-12 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:2672022 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5423683 |
Age: |
embryonic day 14.5 |
|
Note: |
Expression was not detected in whisker follicle. |
Specimen Label: |
EN1189; Specimen N517 |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1881228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692239 |
Age: |
postnatal adult |
Image: |
UC Davis_1860617 |
|
Specimen Label: |
UC Davis_1860617 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1881228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692239 |
Age: |
postnatal adult |
Image: |
UC Davis_1860676 |
|
Specimen Label: |
UC Davis_1860676 |
Detected: |
true |
Specimen Num: |
53 |
|
•
•
•
•
•
|
Publication |
First Author: |
Horan KA |
Year: |
2007 |
Journal: |
Blood |
Title: |
Regulation of FcgammaR-stimulated phagocytosis by the 72-kDa inositol polyphosphate 5-phosphatase: SHIP1, but not the 72-kDa 5-phosphatase, regulates complement receptor 3 mediated phagocytosis by differential recruitment of these 5-phosphatases to the phagocytic cup. |
Volume: |
110 |
Issue: |
13 |
Pages: |
4480-91 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tham MS |
Year: |
2024 |
Journal: |
Nat Commun |
Title: |
Deletion of Aurora kinase A prevents the development of polycystic kidney disease in mice. |
Volume: |
15 |
Issue: |
1 |
Pages: |
371 |
|
•
•
•
•
•
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Publication |
First Author: |
Guo J |
Year: |
2019 |
Journal: |
Dev Cell |
Title: |
Primary Cilia Signaling Promotes Axonal Tract Development and Is Disrupted in Joubert Syndrome-Related Disorders Models. |
Volume: |
51 |
Issue: |
6 |
Pages: |
759-774.e5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yang AW |
Year: |
2015 |
Journal: |
Neurogenetics |
Title: |
Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice. |
Volume: |
16 |
Issue: |
4 |
Pages: |
277-85 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sun M |
Year: |
2012 |
Journal: |
G3 (Bethesda) |
Title: |
Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse. |
Volume: |
2 |
Issue: |
1 |
Pages: |
143-50 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chee JM |
Year: |
2023 |
Journal: |
BMC Biol |
Title: |
Genome-wide screening reveals the genetic basis of mammalian embryonic eye development. |
Volume: |
21 |
Issue: |
1 |
Pages: |
22 |
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•
•
•
•
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Publication |
First Author: |
Nandadasa S |
Year: |
2020 |
Journal: |
Elife |
Title: |
Vascular dimorphism ensured by regulated proteoglycan dynamics favors rapid umbilical artery closure at birth. |
Volume: |
9 |
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•
•
•
•
•
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Publication |
First Author: |
Badgandi HB |
Year: |
2017 |
Journal: |
J Cell Biol |
Title: |
Tubby family proteins are adapters for ciliary trafficking of integral membrane proteins. |
Volume: |
216 |
Issue: |
3 |
Pages: |
743-760 |
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•
•
•
•
|
Publication |
First Author: |
Okazaki N |
Year: |
2003 |
Journal: |
DNA Res |
Title: |
Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. |
Volume: |
10 |
Issue: |
4 |
Pages: |
167-80 |
|
•
•
•
•
•
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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: |
GO Central curators, GOA curators, Rhea curators |
Year: |
2020 |
|
Title: |
Automatic Gene Ontology annotation based on Rhea mapping |
|
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|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
RIKEN Data Curation in Mouse Genome Informatics |
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|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Dickinson ME |
Year: |
2016 |
Journal: |
Nature |
Title: |
High-throughput discovery of novel developmental phenotypes. |
Volume: |
537 |
Issue: |
7621 |
Pages: |
508-514 |
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators, MGI curators |
Year: |
2001 |
|
Title: |
Gene Ontology annotation based on Enzyme Commission mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Mouse Synonym Curation |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2016 |
|
Title: |
Automatic assignment of GO terms using logical inference, based on on inter-ontology links |
|
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|
•
•
•
•
•
|
Publication |
First Author: |
Koscielny G |
Year: |
2014 |
Journal: |
Nucleic Acids Res |
Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
Volume: |
42 |
Issue: |
Database issue |
Pages: |
D802-9 |
|
•
•
•
•
•
|
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: |
Bedogni F |
Year: |
2021 |
Journal: |
Front Mol Neurosci |
Title: |
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. |
Volume: |
14 |
|
Pages: |
686034 |
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•
•
•
•
•
|
Publication |
First Author: |
International Knockout Mouse Consortium |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of modified allele data from IKMC and creation of new knockout alleles |
|
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•
•
•
•
•
|
Publication |
First Author: |
Velocigene |
Year: |
2008 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals) |
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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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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
|
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•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
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•
•
•
•
•
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Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
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Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
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Title: |
Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database |
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•
•
•
•
•
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Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
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•
•
•
•
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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 |
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•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
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•
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Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
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•
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•
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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 |
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Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
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Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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•
•
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•
•
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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 |
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•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
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Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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•
•
•
•
•
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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). |
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•
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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•
•
•
•
•
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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 Gene 1.0 ST Array Platform |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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•
•
•
•
•
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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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•
•
•
•
•
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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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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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•
•
•
•
•
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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 |
|
|
|
|
•
•
•
•
•
|
Pathway |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
524
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Slaats GG |
Year: |
2016 |
Journal: |
J Med Genet |
Title: |
MKS1 regulates ciliary INPP5E levels in Joubert syndrome. |
Volume: |
53 |
Issue: |
1 |
Pages: |
62-72 |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Interaction Experiment |
Description: |
The autophagy protein ATG16L1 cooperates with IFT20 and INPP5E to regulate the turnover of phosphoinositides at the primary cilium. |
|
•
•
•
•
•
|
Publication |
First Author: |
Boukhalfa A |
Year: |
2021 |
Journal: |
Cell Rep |
Title: |
The autophagy protein ATG16L1 cooperates with IFT20 and INPP5E to regulate the turnover of phosphoinositides at the primary cilium. |
Volume: |
35 |
Issue: |
4 |
Pages: |
109045 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
150
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
427
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Bielas SL |
Year: |
2009 |
Journal: |
Nat Genet |
Title: |
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. |
Volume: |
41 |
Issue: |
9 |
Pages: |
1032-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Roberson EC |
Year: |
2015 |
Journal: |
J Cell Biol |
Title: |
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. |
Volume: |
209 |
Issue: |
1 |
Pages: |
129-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hasegawa J |
Year: |
2016 |
Journal: |
EMBO J |
Title: |
Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome. |
Volume: |
35 |
Issue: |
17 |
Pages: |
1853-67 |
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Publication |
First Author: |
Fukuda M |
Year: |
2008 |
Journal: |
Mol Cell Proteomics |
Title: |
Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificity. |
Volume: |
7 |
Issue: |
6 |
Pages: |
1031-42 |
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Publication |
First Author: |
Wang W |
Year: |
2020 |
Journal: |
FASEB J |
Title: |
Genetic interaction of mammalian IFT-A paralogs regulates cilia disassembly, ciliary entry of membrane protein, Hedgehog signaling, and embryogenesis. |
Volume: |
34 |
Issue: |
5 |
Pages: |
6369-6381 |
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Publication |
First Author: |
Rao KN |
Year: |
2016 |
Journal: |
Hum Mol Genet |
Title: |
Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. |
Volume: |
25 |
Issue: |
20 |
Pages: |
4533-4545 |
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Publication |
First Author: |
Basu S |
Year: |
2024 |
Journal: |
Cereb Cortex |
Title: |
Identification of Pappa and Sall3 as Gli3 direct target genes acting downstream of cilia signaling in corticogenesis. |
Volume: |
34 |
Issue: |
12 |
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