| Type |
Details |
Score |
| 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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| Publication |
| First Author: |
MGD Nomenclature Committee |
| Year: |
1995 |
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| Title: |
Nomenclature Committee Use |
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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: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
| Year: |
2011 |
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| Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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| Publication |
| First Author: |
GOA curators |
| Year: |
2016 |
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| 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 |
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| Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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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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| Publication |
| First Author: |
MGI Genome Annotation Group and UniGene Staff |
| Year: |
2015 |
| Journal: |
Database Download |
| Title: |
MGI-UniGene Interconnection Effort |
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| Publication |
| First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
| Year: |
2010 |
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| 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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| 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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| 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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| 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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| 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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| DO Term |
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| Allele |
| Name: |
PDZ domain containing 7; targeted mutation 1a, Wellcome Trust Sanger Institute |
| Allele Type: |
Targeted |
| Attribute String: |
Conditional ready, Null/knockout, Reporter |
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| Allele |
| Name: |
USH1 protein network component sans; Jackson shaker |
| Allele Type: |
Spontaneous |
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•
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| Allele |
| Name: |
USH1 protein network component sans; Jackson shaker 2 Jackson |
| Allele Type: |
Spontaneous |
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•
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•
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| Allele |
| Name: |
USH1 protein network component sans; Jackson shaker 3 Jackson |
| Allele Type: |
Spontaneous |
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| Publication |
| First Author: |
Zou J |
| Year: |
2015 |
| Journal: |
Hum Mol Genet |
| Title: |
Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle. |
| Volume: |
24 |
| Issue: |
24 |
| Pages: |
6944-57 |
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| Strain |
| Attribute String: |
coisogenic, mutant strain, targeted mutation |
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| Genotype |
| Symbol: |
Pdzd7/Pdzd7 |
| Background: |
involves: C57BL/6J * C57BL/6N |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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•
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| Publication |
| First Author: |
Yan J |
| Year: |
2010 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. |
| Volume: |
107 |
| Issue: |
9 |
| Pages: |
4040-5 |
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| Protein Domain |
| Type: |
Domain |
| Description: |
pre-mRNA splicing regulator USH1G (also known as SANS) is a multifunctional scaffold protein. It regulates Magi2-mediated endocytosis []and interacts with MYO7A and USH1C []. Mice lacking USH1G exhibit a loss of tip-links, defects in stereocilia morphology and organization, loss of mechanotransduction currents, and perturbations to hearing and balance []. Mutations in human USH1G gene cause Usher syndrome 1G (USH1G), a genetically heterogeneous condition characterised by the association of retinitis pigmentosa with sensorineural deafness []. USH1G has an N-terminal ankyrin repeat region and a C-terminal SAM domain []. The SAM domain is a putative protein-protein interaction domain. |
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| Genotype |
| Symbol: |
Ush1g/Ush1g |
| Background: |
B6.A-Ush1g/J |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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•
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•
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| Genotype |
| Symbol: |
Ush1g/Ush1g |
| Background: |
B6(Cg)-Ush1g/J |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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•
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•
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| Genotype |
| Symbol: |
Ush1g/Ush1g |
| Background: |
B6.Cg-Ush1g/Kjn |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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| Publication |
| First Author: |
Wu L |
| Year: |
2011 |
| Journal: |
Science |
| Title: |
Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo. |
| Volume: |
331 |
| Issue: |
6018 |
| Pages: |
757-60 |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
461
 |
| Fragment?: |
false |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
461
 |
| Fragment?: |
false |
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| Publication |
| First Author: |
Sorusch N |
| Year: |
2017 |
| Journal: |
Hum Mol Genet |
| Title: |
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. |
| Volume: |
26 |
| Issue: |
6 |
| Pages: |
1157-1172 |
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•
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•
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| Publication |
| First Author: |
Wellcome Trust Sanger Institute |
| Year: |
2010 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute |
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| Publication |
| First Author: |
Skarnes WC |
| Year: |
2011 |
| Journal: |
Nature |
| Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
| Volume: |
474 |
| Issue: |
7351 |
| Pages: |
337-42 |
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