Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3274128 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4944805 |
Age: |
postnatal day 7 |
Image: |
g00226 P7 |
|
Specimen Label: |
g00226 P7 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3274128 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4944805 |
Age: |
postnatal day 42 |
Image: |
g00226 Adult |
|
Specimen Label: |
g00226 Adult |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1928728 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691110 |
Age: |
postnatal adult |
Image: |
UC Davis_1880050 |
|
Specimen Label: |
UC Davis_1880050 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1609219 |
Pattern: |
Regionally restricted |
Stage: |
TS19 |
Assay Id: |
MGI:4944805 |
Age: |
embryonic day 11.5 |
Image: |
g00226 E11.5 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00226 E11.5 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3266028 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4944805 |
Age: |
postnatal day 42 |
Image: |
g00226 Adult |
|
Specimen Label: |
g00226 Adult |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1754028 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4944805 |
Age: |
postnatal day 7 |
Image: |
g00226 P7 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00226 P7 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1754028 |
Pattern: |
Widespread |
Stage: |
TS28 |
Assay Id: |
MGI:4944805 |
Age: |
postnatal day 42 |
Image: |
g00226 Adult |
|
Specimen Label: |
g00226 Adult |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3280923 |
Pattern: |
Widespread |
Stage: |
TS23 |
Assay Id: |
MGI:4944805 |
Age: |
embryonic day 15.5 |
Image: |
g00226 E15.5 |
|
Specimen Label: |
g00226 E15.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3280928 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4944805 |
Age: |
postnatal day 7 |
Image: |
g00226 P7 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00226 P7 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3280928 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4944805 |
Age: |
postnatal day 42 |
Image: |
g00226 Adult |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00226 Adult |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3266523 |
Pattern: |
Widespread |
Stage: |
TS23 |
Assay Id: |
MGI:4944805 |
Age: |
embryonic day 15.5 |
Image: |
g00226 E15.5 |
|
Specimen Label: |
g00226 E15.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1929028 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691110 |
Age: |
postnatal adult |
Image: |
UC Davis_1880049 |
|
Specimen Label: |
UC Davis_1880049 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757723 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4944805 |
Age: |
embryonic day 15.5 |
Image: |
g00226 E15.5 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00226 E15.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757728 |
Pattern: |
Widespread |
Stage: |
TS28 |
Assay Id: |
MGI:4944805 |
Age: |
postnatal day 7 |
Image: |
g00226 P7 |
|
Specimen Label: |
g00226 P7 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884411 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757728 |
Pattern: |
Widespread |
Stage: |
TS28 |
Assay Id: |
MGI:4944805 |
Age: |
postnatal day 42 |
Image: |
g00226 Adult |
|
Specimen Label: |
g00226 Adult |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Strassel C |
Year: |
2007 |
Journal: |
Arterioscler Thromb Vasc Biol |
Title: |
Decreased thrombotic tendency in mouse models of the Bernard-Soulier syndrome. |
Volume: |
27 |
Issue: |
1 |
Pages: |
241-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Strassel C |
Year: |
2009 |
Journal: |
Haematologica |
Title: |
Intrinsic impaired proplatelet formation and microtubule coil assembly of megakaryocytes in a mouse model of Bernard-Soulier syndrome. |
Volume: |
94 |
Issue: |
6 |
Pages: |
800-10 |
|
•
•
•
•
•
|
Publication |
First Author: |
Strassel C |
Year: |
2016 |
Journal: |
J Thromb Haemost |
Title: |
Lentiviral gene rescue of a Bernard-Soulier mouse model to study platelet glycoprotein Ibβ function. |
Volume: |
14 |
Issue: |
7 |
Pages: |
1470-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yin H |
Year: |
2013 |
Journal: |
Arterioscler Thromb Vasc Biol |
Title: |
Role for platelet glycoprotein Ib-IX and effects of its inhibition in endotoxemia-induced thrombosis, thrombocytopenia, and mortality. |
Volume: |
33 |
Issue: |
11 |
Pages: |
2529-37 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gowert NS |
Year: |
2017 |
Journal: |
Cell Signal |
Title: |
Loss of Reelin protects mice against arterial thrombosis by impairing integrin activation and thrombus formation under high shear conditions. |
Volume: |
40 |
|
Pages: |
210-221 |
|
•
•
•
•
•
|
Publication |
First Author: |
Müller U |
Year: |
1998 |
Journal: |
Gene |
Title: |
Structure of the gene encoding the ubiquitin-conjugating enzyme Ubcm4, characterization of its promoter, and chromosomal location. |
Volume: |
224 |
Issue: |
1-2 |
Pages: |
109-16 |
|
•
•
•
•
•
|
Publication |
First Author: |
Suva LJ |
Year: |
2008 |
Journal: |
Am J Pathol |
Title: |
Platelet dysfunction and a high bone mass phenotype in a murine model of platelet-type von Willebrand disease. |
Volume: |
172 |
Issue: |
2 |
Pages: |
430-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cosemans JM |
Year: |
2011 |
Journal: |
Blood |
Title: |
Key role of glycoprotein Ib/V/IX and von Willebrand factor in platelet activation-dependent fibrin formation at low shear flow. |
Volume: |
117 |
Issue: |
2 |
Pages: |
651-60 |
|
•
•
•
•
•
|
Publication |
First Author: |
Merscher S |
Year: |
2001 |
Journal: |
Cell |
Title: |
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. |
Volume: |
104 |
Issue: |
4 |
Pages: |
619-29 |
|
•
•
•
•
•
|
Publication |
First Author: |
Funke B |
Year: |
2001 |
Journal: |
Hum Mol Genet |
Title: |
Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. |
Volume: |
10 |
Issue: |
22 |
Pages: |
2549-56 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li R |
Year: |
2013 |
Journal: |
J Thromb Haemost |
Title: |
The organizing principle of the platelet glycoprotein Ib-IX-V complex. |
Volume: |
11 |
Issue: |
4 |
Pages: |
605-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rhim H |
Year: |
1997 |
Journal: |
Mamm Genome |
Title: |
Localization of a neural crest transcription factor, Slug, to mouse chromosome 16 and human chromosome 8. |
Volume: |
8 |
Issue: |
11 |
Pages: |
872-3 |
|
•
•
•
•
•
|
Publication |
First Author: |
Botta A |
Year: |
1997 |
Journal: |
Mamm Genome |
Title: |
Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation. |
Volume: |
8 |
Issue: |
12 |
Pages: |
890-5 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
169
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
268
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Yokomizo T |
Year: |
2010 |
Journal: |
Development |
Title: |
Three-dimensional cartography of hematopoietic clusters in the vasculature of whole mouse embryos. |
Volume: |
137 |
Issue: |
21 |
Pages: |
3651-61 |
|
•
•
•
•
•
|
Publication |
First Author: |
Frame JM |
Year: |
2016 |
Journal: |
Stem Cells |
Title: |
Definitive Hematopoiesis in the Yolk Sac Emerges from Wnt-Responsive Hemogenic Endothelium Independently of Circulation and Arterial Identity. |
Volume: |
34 |
Issue: |
2 |
Pages: |
431-44 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sutherland HF |
Year: |
1998 |
Journal: |
Genomics |
Title: |
Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse. |
Volume: |
52 |
Issue: |
1 |
Pages: |
37-43 |
|
•
•
•
•
•
|
Publication |
First Author: |
Puech A |
Year: |
2000 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region. |
Volume: |
97 |
Issue: |
18 |
Pages: |
10090-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chhabra A |
Year: |
2012 |
Journal: |
Dev Cell |
Title: |
Trophoblasts regulate the placental hematopoietic niche through PDGF-B signaling. |
Volume: |
22 |
Issue: |
3 |
Pages: |
651-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lund J |
Year: |
2000 |
Journal: |
Genomics |
Title: |
Comparative sequence analysis of 634 kb of the mouse chromosome 16 region of conserved synteny with the human velocardiofacial syndrome region on chromosome 22q11.2. |
Volume: |
63 |
Issue: |
3 |
Pages: |
374-83 |
|
•
•
•
•
•
|
Publication |
First Author: |
Puech A |
Year: |
1997 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. |
Volume: |
94 |
Issue: |
26 |
Pages: |
14608-13 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lund J |
Year: |
1999 |
Journal: |
Mamm Genome |
Title: |
Sequence-ready physical map of the mouse chromosome 16 region with conserved synteny to the human velocardiofacial syndrome region on 22q11.2. |
Volume: |
10 |
Issue: |
5 |
Pages: |
438-43 |
|
•
•
•
•
•
|
Publication |
First Author: |
Maynard TM |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
A comprehensive analysis of 22q11 gene expression in the developing and adult brain. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14433-8 |
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•
•
•
•
•
|
Publication |
First Author: |
Brady KP |
Year: |
1997 |
Journal: |
Genome Res |
Title: |
Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis. |
Volume: |
7 |
Issue: |
11 |
Pages: |
1085-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Backcross DNA Panel Mapping Resource |
Year: |
1999 |
Journal: |
Database Release |
Title: |
JAX BSS Panel Mapping Data |
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|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom |
Year: |
2023 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity |
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•
•
•
•
•
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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 |
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•
•
•
•
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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 |
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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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|
•
•
•
•
•
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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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•
•
•
•
•
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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 |
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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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•
•
•
•
•
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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 |
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130-136 |
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•
•
•
•
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Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
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•
•
•
•
•
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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: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
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: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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•
•
•
•
•
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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 (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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•
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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 |
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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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Allele |
Name: |
transgene insertion 33, Anne K Voss |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
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Gene |
Type: |
gene |
Organism: |
human |
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Allele |
Name: |
deletion, Chr 16, Antonio Baldini 5 |
Allele Type: |
Targeted |
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Strain |
Attribute String: |
targeted mutation, mutant strain, deletion, congenic, chromosome aberration |
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Genotype |
Symbol: |
Del(16Cldn5-Hira)5Bld/Del(16Cldn5-Hira)5Bld |
Background: |
involves: 129S7/SvEvBrd * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Del(16Cldn5-Hira)5Bld/+ |
Background: |
B6.Cg-Tyr Del(16Cldn5-Hira)5Bld |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Del(16Cldn5-Hira)5Bld/+ |
Background: |
involves: 129S7/SvEvBrd * C57BL/6 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
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Allele |
Name: |
glycoprotein 1b, alpha polypeptide; targeted mutation 1, Jerry Ware |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
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Allele |
Name: |
glycoprotein Ib, beta polypeptide; targeted mutation 1, Jerry Ware |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
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Allele |
Name: |
glycoprotein Ib, beta polypeptide; targeted mutation 1, Francois Lanza |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
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Allele |
Name: |
glycoprotein Ib, beta polypeptide; targeted mutation 2, Francois Lanza |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence, Hypomorph, Inserted expressed sequence |
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Genotype |
Symbol: |
Gp1bb/Gp1bb |
Background: |
Not Specified |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Gp1bb/Gp1bb<+> |
Background: |
Not Specified |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Gp1ba/Gp1ba |
Background: |
involves: 129S1/Sv * 129X1/SvJ |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Gp1bb/Gp1bb |
Background: |
involves: 129S2/SvPas * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Gp1bb/Gp1bb |
Background: |
involves: 129S2/SvPas * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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DO Term |
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Genotype |
Symbol: |
Kat6a/Kat6a Tg(RP23-35B9)33Avo/? |
Background: |
involves: 129 * BALB/c * FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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Gene |
Type: |
gene |
Organism: |
human |
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Publication |
First Author: |
Vitelli F |
Year: |
2002 |
Journal: |
Cold Spring Harb Symp Quant Biol |
Title: |
Genetic dissection of the DiGeorge syndrome phenotype. |
Volume: |
67 |
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Pages: |
327-32 |
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Gene |
Type: |
gene |
Organism: |
human |
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Publication |
First Author: |
Devaraju P |
Year: |
2017 |
Journal: |
Mol Psychiatry |
Title: |
Haploinsufficiency of the 22q11.2 microdeletion gene Mrpl40 disrupts short-term synaptic plasticity and working memory through dysregulation of mitochondrial calcium. |
Volume: |
22 |
Issue: |
9 |
Pages: |
1313-1326 |
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Publication |
First Author: |
Chun S |
Year: |
2014 |
Journal: |
Science |
Title: |
Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models. |
Volume: |
344 |
Issue: |
6188 |
Pages: |
1178-82 |
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Strain |
Attribute String: |
chromosome aberration, congenic, deletion, mutant strain, spontaneous mutation, targeted mutation |
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Publication |
First Author: |
Paylor R |
Year: |
2006 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. |
Volume: |
103 |
Issue: |
20 |
Pages: |
7729-34 |
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Publication |
First Author: |
Eom TY |
Year: |
2024 |
Journal: |
Nat Commun |
Title: |
Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome. |
Volume: |
15 |
Issue: |
1 |
Pages: |
10510 |
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