Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:7532714 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2023-10-03 |
Strength: |
Strong |
Sex: |
Female |
Emaps: |
EMAPS:2906528 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:7532723 |
Age: |
postnatal day 5 |
|
Note: |
Nuclear expression. |
Specimen Label: |
3e |
Detected: |
true |
Specimen Num: |
14 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3639585 |
Assay Type: |
RNA in situ |
Annotation Date: |
2006-08-02 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1756328 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3639606 |
Age: |
postnatal adult |
|
|
Specimen Label: |
Not Shown |
Detected: |
true |
Specimen Num: |
9 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3639585 |
Assay Type: |
RNA in situ |
Annotation Date: |
2006-08-02 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3525628 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3639606 |
Age: |
postnatal adult |
Image: |
1YY |
|
Specimen Label: |
1YY |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1661664 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1755823 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4823705 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_001506_08 |
|
Specimen Label: |
euxassay_001506_08 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1661664 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1755823 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4823705 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_001506_09 |
|
Specimen Label: |
euxassay_001506_09 |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1661664 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1755823 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4823705 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_001506_15 |
|
Specimen Label: |
euxassay_001506_15 |
Detected: |
true |
Specimen Num: |
10 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1661664 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1755823 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4823705 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_001506_16 |
|
Specimen Label: |
euxassay_001506_16 |
Detected: |
true |
Specimen Num: |
11 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5638714 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2015-06-09 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:160362 |
Pattern: |
Diffuse |
Stage: |
TS02 |
Assay Id: |
MGI:5638755 |
Age: |
embryonic day 1.0 |
Image: |
2-cell |
Note: |
Expression distributed diffusely throughout cytoplasm of each blastomere at all stages. |
Specimen Label: |
2-cell |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3639585 |
Assay Type: |
RNA in situ |
Annotation Date: |
2006-08-02 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3639606 |
Age: |
postnatal day 8 |
Image: |
1O |
Note: |
Expression is in all neuronal layers throughout the brain. |
Specimen Label: |
1O |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3639585 |
Assay Type: |
RNA in situ |
Annotation Date: |
2006-08-02 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3639606 |
Age: |
postnatal day 19 |
Image: |
1S |
Note: |
Expression is in all neuronal layers throughout the brain. |
Specimen Label: |
1S |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3639585 |
Assay Type: |
RNA in situ |
Annotation Date: |
2006-08-02 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3639606 |
Age: |
postnatal adult |
Image: |
1YY |
Note: |
Expression is in all neuronal layers throughout the brain. |
Specimen Label: |
1YY |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3639585 |
Assay Type: |
RNA in situ |
Annotation Date: |
2006-08-02 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3520828 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:3639606 |
Age: |
postnatal day 8 |
Image: |
4B |
Note: |
Expression is in meningeal vessels. |
Specimen Label: |
4B |
Detected: |
true |
Specimen Num: |
15 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3639585 |
Assay Type: |
RNA in situ |
Annotation Date: |
2006-08-02 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3514627 |
Pattern: |
Regionally restricted |
Stage: |
TS27 |
Assay Id: |
MGI:3639606 |
Age: |
postnatal day 0 |
Image: |
5AA |
Note: |
Expression is in meningeal vessels. |
Specimen Label: |
5AA |
Detected: |
true |
Specimen Num: |
16 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3639585 |
Assay Type: |
RNA in situ |
Annotation Date: |
2006-08-02 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3514628 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:3639606 |
Age: |
postnatal day 8 |
Image: |
5CC |
Note: |
Expression is in meningeal vessels. |
Specimen Label: |
5CC |
Detected: |
true |
Specimen Num: |
17 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3639585 |
Assay Type: |
RNA in situ |
Annotation Date: |
2006-08-02 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:3514628 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3639606 |
Age: |
postnatal day 19 |
Image: |
5EE |
Note: |
Expression is absent in meningeal vessels. |
Specimen Label: |
5EE |
Detected: |
false |
Specimen Num: |
18 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3639585 |
Assay Type: |
RNA in situ |
Annotation Date: |
2006-08-02 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:3514628 |
|
Stage: |
TS28 |
Assay Id: |
MGI:3639606 |
Age: |
postnatal adult |
Image: |
5GG |
Note: |
Expression is absent in meningeal vessels. |
Specimen Label: |
5GG |
Detected: |
false |
Specimen Num: |
19 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3639585 |
Assay Type: |
RNA in situ |
Annotation Date: |
2006-08-02 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1758122 |
Pattern: |
Not Specified |
Stage: |
TS22 |
Assay Id: |
MGI:3639606 |
Age: |
embryonic day 14.5 |
Image: |
1K |
|
Specimen Label: |
1K |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3639585 |
Assay Type: |
RNA in situ |
Annotation Date: |
2006-08-02 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3561128 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3639606 |
Age: |
postnatal adult |
|
|
Specimen Label: |
Not Shown |
Detected: |
true |
Specimen Num: |
9 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7532714 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2023-10-03 |
Strength: |
Absent |
Sex: |
Female |
Emaps: |
EMAPS:3819728 |
|
Stage: |
TS28 |
Assay Id: |
MGI:7532723 |
Age: |
postnatal week 12 |
|
Note: |
Not expressed in grown oocytes in further-developed follicles. |
Specimen Label: |
3i |
Detected: |
false |
Specimen Num: |
16 |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
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: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Publication |
First Author: |
Renz M |
Year: |
2015 |
Journal: |
Dev Cell |
Title: |
Regulation of β1 integrin-Klf2-mediated angiogenesis by CCM proteins. |
Volume: |
32 |
Issue: |
2 |
Pages: |
181-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tang AT |
Year: |
2017 |
Journal: |
Nature |
Title: |
Endothelial TLR4 and the microbiome drive cerebral cavernous malformations. |
Volume: |
545 |
Issue: |
7654 |
Pages: |
305-310 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cuttano R |
Year: |
2016 |
Journal: |
EMBO Mol Med |
Title: |
KLF4 is a key determinant in the development and progression of cerebral cavernous malformations. |
Volume: |
8 |
Issue: |
1 |
Pages: |
6-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tang AT |
Year: |
2019 |
Journal: |
Sci Transl Med |
Title: |
Distinct cellular roles for PDCD10 define a gut-brain axis in cerebral cavernous malformation. |
Volume: |
11 |
Issue: |
520 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Zhou X |
Year: |
2011 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Rac1/osmosensing scaffold for MEKK3 contributes via phospholipase C-gamma1 to activation of the osmoprotective transcription factor NFAT5. |
Volume: |
108 |
Issue: |
29 |
Pages: |
12155-60 |
|
•
•
•
•
•
|
Publication |
First Author: |
Han R |
Year: |
2015 |
Journal: |
Organogenesis |
Title: |
Endothelial Erg expression is required for embryogenesis and vascular integrity. |
Volume: |
11 |
Issue: |
2 |
Pages: |
75-86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang R |
Year: |
2021 |
Journal: |
JCI Insight |
Title: |
Pdcd10-Stk24/25 complex controls kidney water reabsorption by regulating Aqp2 membrane targeting. |
Volume: |
6 |
Issue: |
12 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Faurobert E |
Year: |
2013 |
Journal: |
J Cell Biol |
Title: |
CCM1-ICAP-1 complex controls β1 integrin-dependent endothelial contractility and fibronectin remodeling. |
Volume: |
202 |
Issue: |
3 |
Pages: |
545-61 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hong CC |
Year: |
2020 |
Journal: |
J Exp Med |
Title: |
Cerebral cavernous malformations are driven by ADAMTS5 proteolysis of versican. |
Volume: |
217 |
Issue: |
10 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
He Y |
Year: |
2010 |
Journal: |
Sci Signal |
Title: |
Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. |
Volume: |
3 |
Issue: |
116 |
Pages: |
ra26 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lu CC |
Year: |
2011 |
Journal: |
J Neurosci |
Title: |
Developmental profiling of spiral ganglion neurons reveals insights into auditory circuit assembly. |
Volume: |
31 |
Issue: |
30 |
Pages: |
10903-18 |
|
•
•
•
•
•
|
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: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
MGC Data curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
Data Curation Using Mouse Genome Assembly |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Friedel RH |
Year: |
2007 |
Journal: |
Brief Funct Genomic Proteomic |
Title: |
EUCOMM--the European conditional mouse mutagenesis program. |
Volume: |
6 |
Issue: |
3 |
Pages: |
180-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Stryke D |
Year: |
2003 |
Journal: |
Nucleic Acids Res |
Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
Volume: |
31 |
Issue: |
1 |
Pages: |
278-81 |
|
•
•
•
•
•
|
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: |
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: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database |
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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 |
|
•
•
•
•
•
|
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. |
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|
|
|
•
•
•
•
•
|
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 |
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|
|
|
•
•
•
•
•
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Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
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Title: |
Cyagen Biosciences Website. |
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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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|
|
|
•
•
•
•
•
|
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 |
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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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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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|
|
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
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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: |
frog, African clawed |
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Gene |
Type: |
gene |
Organism: |
frog, African clawed |
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Gene |
Type: |
gene |
Organism: |
frog, African clawed |
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Allele |
Name: |
cerebral cavernous malformation 2; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
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Allele |
Name: |
cerebral cavernous malformation 2; targeted mutation 1, Kevin Whitehead |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, No functional change |
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Allele |
Name: |
cerebral cavernous malformation 2; targeted mutation 1.1, Kevin Whitehead |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
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Allele |
Name: |
cerebral cavernous malformation 2; targeted mutation 1, Elisabeth Tournier-Lasserve |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, No functional change |
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Allele |
Name: |
cerebral cavernous malformation 2; targeted mutation 2.1, Ulrich Siebenlist |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, No functional change |
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Allele |
Name: |
cerebral cavernous malformation 2; targeted mutation 1, Mark L Kahn |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, No functional change |
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Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
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Genotype |
Symbol: |
Ccm2/Ccm2 Tg(Nes-cre)1Kln/? |
Background: |
B6.Cg-Ccm2 Tg(Nes-cre)1Kln |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Ccm2/Ccm2 Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/? |
Background: |
involves: C57BL/6 * CBA |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Ccm2/Ccm2 Tg(Mx1-cre)1Cgn/? |
Background: |
involves: C57BL/6 * CBA |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Ccm2/Ccm2 Tg(Tek-cre)1Ywa/? |
Background: |
involves: C57BL/6 * SJL |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Ccm2/Ccm2 Tg(Cdh5-cre/ERT2)1Rha/? |
Background: |
involves: 129 * C57BL/6 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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DO Term |
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Genotype |
Symbol: |
Ccm2/Ccm2 Tg(Cdh5-cre/ERT2)1Rha/? |
Background: |
involves: 129 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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Publication |
First Author: |
Xu X |
Year: |
2013 |
Journal: |
Structure |
Title: |
Structural basis for the unique heterodimeric assembly between cerebral cavernous malformation 3 and germinal center kinase III. |
Volume: |
21 |
Issue: |
6 |
Pages: |
1059-66 |
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Publication |
First Author: |
Zhang M |
Year: |
2013 |
Journal: |
Structure |
Title: |
Structural mechanism of CCM3 heterodimerization with GCKIII kinases. |
Volume: |
21 |
Issue: |
4 |
Pages: |
680-8 |
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Protein Domain |
Type: |
Homologous_superfamily |
Description: |
Programmed cell death 10 protein (PDCD10/CCM3) is part of the CCM complex and is required for neuronal migration []. Outside of this complex, it is crucial in vascularization and in angiogenesis as it functions in vessel permeability and stability []. This protein plays an essential role in early embryonic angiogenesis and cardiovascular development. PDCD10/CCM3 interacts with a variety of proteins, including paxillin, membrane receptor vascular epidermal growth factor receptor 2, CCM complex component CCM2 and germinal centre kinase III proteins (GCKIII). PDCD10/CCM3 contains an N-terminal dimerisation domain and a C-terminal focal adhesion targeting-homology (FAT-H) domain [, , ].This entry represents the N-terminal dimerisation domain of PDC10/CCM3, consisting of four α-helices. This domain is also found at the C-terminal of GCKIIIs (STK24/MST3, STK25, STK26/MST4), which adopts a closely related fold. GCKIIIs are involved in the regulation of apoptosis, cell proliferation, polarity, migration, and cytoskeleton remodelling. This domain mediates homo and heterodimerization. PDCD10/CCM3 forms a heterodimer with GCKIIIs analogous to CCM3 homodimer [, ]. |
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Publication |
First Author: |
Mleynek TM |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
Lack of CCM1 induces hypersprouting and impairs response to flow. |
Volume: |
23 |
Issue: |
23 |
Pages: |
6223-34 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
212
 |
Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
162
 |
Fragment?: |
true |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
66
 |
Fragment?: |
true |
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Publication |
First Author: |
Louvi A |
Year: |
2014 |
Journal: |
Development |
Title: |
Ccm3, a gene associated with cerebral cavernous malformations, is required for neuronal migration. |
Volume: |
141 |
Issue: |
6 |
Pages: |
1404-15 |
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Publication |
First Author: |
Draheim KM |
Year: |
2014 |
Journal: |
J Cell Sci |
Title: |
Cerebral cavernous malformation proteins at a glance. |
Volume: |
127 |
Issue: |
Pt 4 |
Pages: |
701-7 |
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Publication |
First Author: |
Lambertz N |
Year: |
2015 |
Journal: |
BMC Cancer |
Title: |
Downregulation of programmed cell death 10 is associated with tumor cell proliferation, hyperangiogenesis and peritumoral edema in human glioblastoma. |
Volume: |
15 |
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Pages: |
759 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
149
 |
Fragment?: |
false |
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Publication |
First Author: |
Wang Y |
Year: |
1999 |
Journal: |
Sci China C Life Sci |
Title: |
cDNA cloning and expression of an apoptosis-related gene, humanTFAR15 gene. |
Volume: |
42 |
Issue: |
3 |
Pages: |
323-9 |
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Protein Domain |
Type: |
Family |
Description: |
Programmed cell death 10 protein (PDCD10/CCM3) is part of the CCM complex and is required for neuronal migration []. It also has roles outside of this complex [], it is crucial in vascularization and in angiogenesis as it functions in vessel permeability and stability []. PDCD10/CCM3 was originally discovered to be upregulated during granulocyte apoptosis and is thought to play a role in cell death []. However, a specific role for PDCD10 in cell survival is not clear as both pro-survival and pro-apoptotic effects have been reported [, ]. PDCD10/CCM3 contains an N-terminal dimerisation domain and a C-terminal focal adhesion targeting-homology (FAT-H) domain [].There are three CCM proteins: CCM1 (also known as KRIT1), CCM2 (also known as OSM and malcavernin) and CCM3 (also known as PDCD10). Mutations in the genes encoding CCM proteins cause cerebral cavernous malformations (CCMs), a disease characterised by dilated leaky blood vessels, especially in the neurovasculature, that result in increased risk of stroke, focal neurological defects and seizures. The CCM proteins can form a trimeric complex. They can also interact with a range of signaling, cytoskeletal and adaptor proteins that may account for their roles in a range of basic cellular processes including cell adhesion, migration, polarity and apoptosis []. |
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Publication |
First Author: |
Glading AJ |
Year: |
2010 |
Journal: |
Dis Model Mech |
Title: |
Rap1 and its effector KRIT1/CCM1 regulate beta-catenin signaling. |
Volume: |
3 |
Issue: |
1-2 |
Pages: |
73-83 |
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