| Type |
Details |
Score |
| Publication |
| First Author: |
The Gene Ontology Consortium |
| Year: |
2014 |
|
| Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
MGD Nomenclature Committee |
| Year: |
1995 |
|
| Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
| 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 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
GOA curators |
| Year: |
2016 |
|
| Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
| Year: |
2011 |
|
| Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
UniProt |
| Year: |
2021 |
|
| Title: |
Electronic Gene Ontology annotations created by ARBA machine learning models |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
GemPharmatech |
| Year: |
2020 |
|
| Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
| 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: |
DDB, FB, MGI, GOA, ZFIN curators |
| Year: |
2001 |
|
| Title: |
Gene Ontology annotation through association of InterPro records with GO terms |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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). |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
MGI Genome Annotation Group and UniGene Staff |
| Year: |
2015 |
| Journal: |
Database Download |
| Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
UniProt-GOA |
| Year: |
2012 |
|
| Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
|
|
|
|
•
•
•
•
•
|
| 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 Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Allen Institute for Brain Science |
| Year: |
2004 |
| Journal: |
Allen Institute |
| Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
| Year: |
2000 |
| Journal: |
Database Release |
| Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics and Ensembl Genome Database Project |
| Year: |
2026 |
| Journal: |
Database Release |
| Title: |
MGI Strain Genome Feature and Gene Model Load from Ensembl. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bairoch A |
| Year: |
1999 |
| Journal: |
Database Release |
| Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
| 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 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics |
| Year: |
2010 |
| Journal: |
Database Release |
| Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Group |
| Year: |
2003 |
| Journal: |
Database Procedure |
| Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gibbs D |
| Year: |
2010 |
| Journal: |
Invest Ophthalmol Vis Sci |
| Title: |
Function of MYO7A in the human RPE and the validity of shaker1 mice as a model for Usher syndrome 1B. |
| Volume: |
51 |
| Issue: |
2 |
| Pages: |
1130-5 |
|
•
•
•
•
•
|
| HT Experiment |
|
| Experiment Type: |
RNA-Seq |
| Study Type: |
WT vs. Mutant |
| Source: |
GEO |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5431536 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2024-06-06 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1729022 |
| Pattern: |
Regionally restricted |
| Stage: |
TS22 |
| Assay Id: |
MGI:7645520 |
| Age: |
embryonic day 14.0 |
| Image: |
3D |
| Note: |
Co-expression with Myo7a in hair cells. |
| Specimen Label: |
3D |
| Detected: |
true |
| Specimen Num: |
5 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5431536 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2024-06-06 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1729022 |
| Pattern: |
Regionally restricted |
| Stage: |
TS22 |
| Assay Id: |
MGI:7645520 |
| Age: |
embryonic day 14.0 |
| Image: |
3D |
| Note: |
Co-expression with Myo7a in hair cells. |
| Specimen Label: |
3D |
| Detected: |
true |
| Specimen Num: |
5 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:6393603 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2020-03-10 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1698217 |
| Pattern: |
Regionally restricted |
| Stage: |
TS17 |
| Assay Id: |
MGI:6393616 |
| Age: |
embryonic day 10.5 |
| Image: |
2C inset |
| Note: |
Co-expression with Myo7a in cochleovestibular ganglion. |
| Specimen Label: |
2C inset |
| Detected: |
true |
| Specimen Num: |
4 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:6393603 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2020-03-10 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1698219 |
| Pattern: |
Regionally restricted |
| Stage: |
TS19 |
| Assay Id: |
MGI:6393616 |
| Age: |
embryonic day 11.5 |
| Image: |
2I inset |
| Note: |
Co-expression with Myo7a in cochleovestibular ganglion. |
| Specimen Label: |
2I inset |
| Detected: |
true |
| Specimen Num: |
6 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:1860227 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2020-03-10 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1698217 |
| Pattern: |
Regionally restricted |
| Stage: |
TS17 |
| Assay Id: |
MGI:6393617 |
| Age: |
embryonic day 10.5 |
| Image: |
2F inset |
| Note: |
Co-expression with Myo7a in cochleovestibular ganglion. |
| Specimen Label: |
2F inset |
| Detected: |
true |
| Specimen Num: |
4 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:1860227 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2020-03-10 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1698219 |
| Pattern: |
Regionally restricted |
| Stage: |
TS19 |
| Assay Id: |
MGI:6393617 |
| Age: |
embryonic day 11.5 |
| Image: |
2L inset |
| Note: |
Co-expression with Myo7a in cochleovestibular ganglion. |
| Specimen Label: |
2L inset |
| Detected: |
true |
| Specimen Num: |
6 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:6393608 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2020-03-10 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1698217 |
| Pattern: |
Regionally restricted |
| Stage: |
TS17 |
| Assay Id: |
MGI:6393618 |
| Age: |
embryonic day 10.5 |
| Image: |
4C inset |
| Note: |
Co-expression with Myo7a in cochleovestibular ganglion. |
| Specimen Label: |
4C inset |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:6393603 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2020-03-10 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1666015 |
| Pattern: |
Regionally restricted |
| Stage: |
TS15 |
| Assay Id: |
MGI:6393616 |
| Age: |
embryonic day 9.5 |
| Image: |
1C inset |
| Note: |
Co-expression with Myo7a in cochleovestibular ganglion. |
| Specimen Label: |
1C inset |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:1860227 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2020-03-10 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1666015 |
| Pattern: |
Regionally restricted |
| Stage: |
TS15 |
| Assay Id: |
MGI:6393617 |
| Age: |
embryonic day 9.5 |
| Image: |
1F inset |
| Note: |
Co-expression with Myo7a in cochleovestibular ganglion. |
| Specimen Label: |
1F inset |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:1860227 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2020-03-10 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1757320 |
| Pattern: |
Regionally restricted |
| Stage: |
TS20 |
| Assay Id: |
MGI:6393617 |
| Age: |
embryonic day 12.5 |
| Image: |
3C inset |
| Note: |
Co-expression with Myo7a in vestibular ganglion. |
| Specimen Label: |
3C inset |
| Detected: |
true |
| Specimen Num: |
8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Williams DS |
| Year: |
2011 |
| Journal: |
Biochem Soc Trans |
| Title: |
The many different cellular functions of MYO7A in the retina. |
| Volume: |
39 |
| Issue: |
5 |
| Pages: |
1207-10 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:7354987 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2022-10-19 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1906128 |
| Pattern: |
Regionally restricted |
| Stage: |
TS28 |
| Assay Id: |
MGI:7356365 |
| Age: |
postnatal day 28 |
|
| Note: |
Co-expression with Myo7a in cytoplasm of hair cells. |
| Specimen Label: |
6A/C |
| Detected: |
true |
| Specimen Num: |
26 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:7354987 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2022-10-19 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1906128 |
| Pattern: |
Regionally restricted |
| Stage: |
TS28 |
| Assay Id: |
MGI:7356365 |
| Age: |
postnatal day 28 |
|
| Note: |
Co-expression with Myo7a in cytoplasm of hair cells. |
| Specimen Label: |
6A/C |
| Detected: |
true |
| Specimen Num: |
26 |
|
•
•
•
•
•
|
| Allele |
| Name: |
myosin VIIA; dumbo2 |
| Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Myo7a/Myo7a |
| Background: |
involves: C57BL/6J |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:6393608 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2020-03-10 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1698219 |
| Pattern: |
Regionally restricted |
| Stage: |
TS19 |
| Assay Id: |
MGI:6393618 |
| Age: |
embryonic day 11.5 |
| Image: |
4F inset |
| Note: |
Co-expression with Myo7a in subset of Neurod1-expressing cells in cochleovestibular ganglion. |
| Specimen Label: |
4F inset |
| Detected: |
true |
| Specimen Num: |
4 |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5431536 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2024-06-06 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3524723 |
| Pattern: |
Regionally restricted |
| Stage: |
TS23 |
| Assay Id: |
MGI:7645520 |
| Age: |
embryonic day 15.0 |
| Image: |
5B |
| Note: |
Co expression with Myo7a in subset of cells within zone of proliferating cells (ZNP"C) at basal end. |
| Specimen Label: |
5B |
| Detected: |
true |
| Specimen Num: |
8 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:7354987 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2022-10-19 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1906127 |
| Pattern: |
Regionally restricted |
| Stage: |
TS27 |
| Assay Id: |
MGI:7356365 |
| Age: |
postnatal day 1 |
|
| Note: |
Expression in organ of Corti in both cytoplasm and nucleus of inner cells and outer hair cells, co-expressed with Myo7a |
| Specimen Label: |
2C |
| Detected: |
true |
| Specimen Num: |
12 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:7354987 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2022-10-19 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1906127 |
| Pattern: |
Regionally restricted |
| Stage: |
TS27 |
| Assay Id: |
MGI:7356365 |
| Age: |
postnatal day 1 |
|
| Note: |
Expression in organ of Corti in both cytoplasm and nucleus of inner cells and outer hair cells, co-expressed with Myo7a |
| Specimen Label: |
2C |
| Detected: |
true |
| Specimen Num: |
12 |
|
•
•
•
•
•
|
| Allele |
| Name: |
myosin VIIA; shaker 1, 6 Oak Ridge |
| Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
| Allele |
| Name: |
hypoxanthine phosphoribosyltransferase 1; targeted mutation 2, Allan Bradley |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout, Reporter |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Allele |
| Name: |
myosin VIIA; headbanger |
| Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
targeted mutation |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bolz H |
| Year: |
2001 |
| Journal: |
Nat Genet |
| Title: |
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. |
| Volume: |
27 |
| Issue: |
1 |
| Pages: |
108-12 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
mutant strain, coisogenic, chemically induced mutation |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Myo7a/Myo7a |
| Background: |
C3HeB/FeJ-Myo7a/Ieg |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Myo7a/Myo7a<+> |
| Background: |
C3HeB/FeJ-Myo7a/Ieg |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Myo7a/Myo7a<4626SB> |
| Background: |
involves: BALB/c * 47BS/Rl * C3HeB/FeJ * CBA/Ca |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Hprt1/Hprt1<+> Myo7a<4626SB>/Myo7a<4626SB> |
| Background: |
involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Roux AF |
| Year: |
2006 |
| Journal: |
J Med Genet |
| Title: |
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. |
| Volume: |
43 |
| Issue: |
9 |
| Pages: |
763-8 |
|
•
•
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| Protein Domain |
| Type: |
Domain |
| Description: |
This entry represents an ��/�� domain found in the vertebrate Cadherin-23 (CDH23) and related proteins, including their orthologues in fruit fly Cadherin-87A and Cadherin-89D. Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organisation of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development [, ]. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells []. |
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| Protein Domain |
| Type: |
Domain |
| Description: |
Ankyrin repeat and SAM domain-containing protein 4B (ANKS4B), also called Harmonin-interacting ankyrin repeat-containing protein (Harp), is highly expressed in intestine and is essential for intermicrovillar adhesion. As part of the intermicrovillar adhesion complex (IMAC), ANKS4B plays a role in epithelial brush border differentiation, controlling microvilli organization and length. It may be involved in cellular response to endoplasmic reticulum stress. ANKS4B consists of four N-terminal ANK repeats, a central region, and a sterile alpha motif (SAM) followed by a C-terminal type I PDZ binding motif (PBM). This entry corresponds to the central region (CEN) of ANKS4B, which contains the conserved regions CEN1 and CEN2. CEN is directly responsible for binding to the N-terminal MyTH4-FERM-SH3 supramodule of MYO7B, with a mechanism highly analogous to the interaction between USH1G and MYO7A [, , ]. |
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| Protein Domain |
| Type: |
Domain |
| Description: |
This entry corresponds to the central region (CEN) of USH1G, which contains the conserved regions CEN1 and CEN2. CEN is directly responsible for binding to the MYO7A MyTH4-FERM tandemUsher syndrome type-1G protein (USH1G), also known as SANS (scaffold protein containing ankyrin repeats and SAM domain), is a multifunctional anchoring/scaffolding protein that is part of the functional network formed by USH1C, CDH23 and MYO7A, mediating mechanotransduction in cochlear hair cells. It regulates Magi2-mediated endocytosis []and is required for normal development and maintenance of cochlear hair cell bundles. Mice lacking USH1G exhibit loss of tip-links, defects in stereocilia morphology and organization, loss of mechanotransduction currents, and perturbations to hearing and balance []. Mutations in the human USH1G gene cause Usher syndrome 1G, a genetically heterogeneous condition characterised by the association of retinitis pigmentosa with sensorineural deafness [, , , , , ]. |
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| Publication |
| First Author: |
He Y |
| Year: |
2019 |
| Journal: |
Cell Rep |
| Title: |
Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. |
| Volume: |
29 |
| Issue: |
4 |
| Pages: |
974-986.e4 |
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| Publication |
| First Author: |
Ballesteros A |
| Year: |
2022 |
| Journal: |
Sci Rep |
| Title: |
Selective binding and transport of protocadherin 15 isoforms by stereocilia unconventional myosins in a heterologous expression system. |
| Volume: |
12 |
| Issue: |
1 |
| Pages: |
13764 |
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| Publication |
| First Author: |
Weil D |
| Year: |
2003 |
| Journal: |
Hum Mol Genet |
| Title: |
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. |
| Volume: |
12 |
| Issue: |
5 |
| Pages: |
463-71 |
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| Strain |
| Attribute String: |
radiation induced mutation, inversion, mutant stock, chromosome aberration, chemically induced mutation |
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| Publication |
| First Author: |
Bau? K |
| Year: |
2014 |
| Journal: |
Hum Mol Genet |
| Title: |
Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis. |
| Volume: |
23 |
| Issue: |
15 |
| Pages: |
3923-42 |
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| Publication |
| First Author: |
Kalay E |
| Year: |
2005 |
| Journal: |
J Mol Med (Berl) |
| Title: |
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. |
| Volume: |
83 |
| Issue: |
12 |
| Pages: |
1025-32 |
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| Publication |
| First Author: |
Fern?ndez-Medarde A |
| Year: |
2009 |
| Journal: |
J Neurochem |
| Title: |
RasGRF1 disruption causes retinal photoreception defects and associated transcriptomic alterations. |
| Volume: |
110 |
| Issue: |
2 |
| Pages: |
641-52 |
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| Publication |
| First Author: |
Kelley PM |
| Year: |
1997 |
| Journal: |
Genomics |
| Title: |
The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A). |
| Volume: |
40 |
| Issue: |
1 |
| Pages: |
73-9 |
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| Publication |
| First Author: |
McGrath J |
| Year: |
2021 |
| Journal: |
Curr Biol |
| Title: |
Actin at stereocilia tips is regulated by mechanotransduction and ADF/cofilin. |
| Volume: |
31 |
| Issue: |
6 |
| Pages: |
1141-1153.e7 |
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| Publication |
| First Author: |
Crawley SW |
| Year: |
2016 |
| Journal: |
Dev Cell |
| Title: |
ANKS4B Is Essential for Intermicrovillar Adhesion Complex Formation. |
| Volume: |
36 |
| Issue: |
2 |
| Pages: |
190-200 |
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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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| Publication |
| First Author: |
Buniello A |
| Year: |
2013 |
| Journal: |
PLoS One |
| Title: |
Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness. |
| Volume: |
8 |
| Issue: |
2 |
| Pages: |
e56274 |
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| Publication |
| First Author: |
Chang B |
| Year: |
2024 |
| Journal: |
MGI Direct Data Submission |
| Title: |
The retinal cone dysfunction mutation. |
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| Publication |
| First Author: |
Schneider E |
| Year: |
2009 |
| Journal: |
Hum Mol Genet |
| Title: |
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. |
| Volume: |
18 |
| Issue: |
4 |
| Pages: |
655-66 |
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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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| Publication |
| First Author: |
Li J |
| Year: |
2016 |
| Journal: |
Dev Cell |
| Title: |
Mechanistic Basis of Organization of the Harmonin/USH1C-Mediated Brush Border Microvilli Tip-Link Complex. |
| Volume: |
36 |
| Issue: |
2 |
| Pages: |
179-89 |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
461
 |
| Fragment?: |
false |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
423
 |
| Fragment?: |
false |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
461
 |
| Fragment?: |
false |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
3354
 |
| Fragment?: |
false |
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•
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
3321
 |
| Fragment?: |
false |
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•
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
3353
 |
| Fragment?: |
false |
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•
•
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
3352
 |
| Fragment?: |
false |
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•
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
3352
 |
| Fragment?: |
false |
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•
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
3267
 |
| Fragment?: |
false |
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•
•
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
3283
 |
| Fragment?: |
false |
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