| 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 |
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•
•
•
•
•
|
| 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. |
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10 |
| Issue: |
5 |
| Pages: |
438-43 |
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•
•
•
•
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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: |
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| Issue: |
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•
•
•
•
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| Publication |
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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 |
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1085-93 |
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•
•
•
•
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| 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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•
•
•
•
•
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Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom |
| Year: |
2023 |
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| 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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| Year: |
2016 |
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Nature |
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High-throughput discovery of novel developmental phenotypes. |
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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. |
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•
•
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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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•
•
•
•
•
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| Publication |
| First Author: |
International Mouse Strain Resource |
| Year: |
2014 |
| Journal: |
Database Download |
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MGI download of germline transmission data for alleles from IMSR strain data |
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•
•
•
•
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| 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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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: |
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| Issue: |
4 |
| Pages: |
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•
•
•
•
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| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2003 |
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| Title: |
MGI Sequence Curation Reference |
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•
•
•
•
•
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| Publication |
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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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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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•
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| 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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| 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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| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2010 |
| Journal: |
Database Download |
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Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
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Mouse Genome Database and National Center for Biotechnology Information |
| Year: |
2000 |
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Database Release |
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Entrez Gene Load |
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•
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•
•
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| 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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•
•
|
| 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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•
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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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•
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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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•
•
•
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| Gene |
| Type: |
gene |
| Organism: |
human |
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•
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| Allele |
| Name: |
deletion, Chr 16, Antonio Baldini 5 |
| Allele Type: |
Targeted |
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•
•
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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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•
•
•
•
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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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•
•
•
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| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
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•
•
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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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•
•
•
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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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•
•
•
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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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•
•
•
•
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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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•
•
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| Genotype |
| Symbol: |
Gp1bb/Gp1bb |
| Background: |
Not Specified |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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•
•
•
•
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| Genotype |
| Symbol: |
Gp1bb/Gp1bb<+> |
| Background: |
Not Specified |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
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•
•
•
•
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| Genotype |
| Symbol: |
Gp1ba/Gp1ba |
| Background: |
involves: 129S1/Sv * 129X1/SvJ |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Gp1bb/Gp1bb |
| Background: |
involves: 129S2/SvPas * C57BL/6 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Gp1bb/Gp1bb |
| Background: |
involves: 129S2/SvPas * C57BL/6 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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•
•
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•
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| DO Term |
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•
•
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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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•
•
•
•
•
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| Gene |
| Type: |
gene |
| Organism: |
human |
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•
•
•
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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 |
|
| Pages: |
327-32 |
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•
•
•
•
•
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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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•
•
•
•
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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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•
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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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