Type |
Details |
Score |
Publication |
First Author: |
Najarro EH |
Year: |
2020 |
Journal: |
Development |
Title: |
Dual regulation of planar polarization by secreted Wnts and Vangl2 in the developing mouse cochlea. |
Volume: |
147 |
Issue: |
19 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Sanchez-Calderon H |
Year: |
2010 |
Journal: |
PLoS One |
Title: |
RNA microarray analysis in prenatal mouse cochlea reveals novel IGF-I target genes: implication of MEF2 and FOXM1 transcription factors. |
Volume: |
5 |
Issue: |
1 |
Pages: |
e8699 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rohacek AM |
Year: |
2017 |
Journal: |
Dev Cell |
Title: |
ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development. |
Volume: |
43 |
Issue: |
3 |
Pages: |
318-331.e5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hasson T |
Year: |
1996 |
Journal: |
Genomics |
Title: |
Mapping of unconventional myosins in mouse and human. |
Volume: |
36 |
Issue: |
3 |
Pages: |
431-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Celaya AM |
Year: |
2019 |
Journal: |
Elife |
Title: |
Deficit of mitogen-activated protein kinase phosphatase 1 (DUSP1) accelerates progressive hearing loss. |
Volume: |
8 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Xie Z |
Year: |
2023 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
ZBTB20 is essential for cochlear maturation and hearing in mice. |
Volume: |
120 |
Issue: |
24 |
Pages: |
e2220867120 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wilkerson BA |
Year: |
2021 |
Journal: |
Elife |
Title: |
Novel cell types and developmental lineages revealed by single-cell RNA-seq analysis of the mouse crista ampullaris. |
Volume: |
10 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Nakano Y |
Year: |
2012 |
Journal: |
PLoS Genet |
Title: |
A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse. |
Volume: |
8 |
Issue: |
10 |
Pages: |
e1002966 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fairfield H |
Year: |
2015 |
Journal: |
Genome Res |
Title: |
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. |
Volume: |
25 |
Issue: |
7 |
Pages: |
948-57 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nakano Y |
Year: |
2019 |
Journal: |
Cell Rep |
Title: |
Overlapping Activities of Two Neuronal Splicing Factors Switch the GABA Effect from Excitatory to Inhibitory by Regulating REST. |
Volume: |
27 |
Issue: |
3 |
Pages: |
860-871.e8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project (MGP) |
Year: |
2011 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the Wellcome Trust Sanger Institute (WTSI) Mouse Resources Portal |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ingham NJ |
Year: |
2019 |
Journal: |
PLoS Biol |
Title: |
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. |
Volume: |
17 |
Issue: |
4 |
Pages: |
e3000194 |
|
•
•
•
•
•
|
Publication |
First Author: |
International Committee on Standardized Genetic Nomenclature for Mice |
Year: |
1993 |
|
Title: |
Nomenclature rule change to delete hyphens and parentheses from mouse locus symbols |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bedogni F |
Year: |
2021 |
Journal: |
Front Mol Neurosci |
Title: |
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. |
Volume: |
14 |
|
Pages: |
686034 |
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
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: |
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: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
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: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
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: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
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 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 Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
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 (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
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Allele |
Name: |
myosin VIIA; shaker 1, 6 Oak Ridge |
Allele Type: |
Chemically induced (ENU) |
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Allele |
Name: |
hypoxanthine phosphoribosyltransferase 1; targeted mutation 2, Allan Bradley |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout, Reporter |
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DO Term |
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Allele |
Name: |
myosin VIIA; headbanger |
Allele Type: |
Chemically induced (ENU) |
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Strain |
Attribute String: |
targeted mutation |
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Strain |
Attribute String: |
mutant strain, coisogenic, chemically induced mutation |
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Genotype |
Symbol: |
Myo7a/Myo7a |
Background: |
C3HeB/FeJ-Myo7a/Ieg |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Myo7a/Myo7a<+> |
Background: |
C3HeB/FeJ-Myo7a/Ieg |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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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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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: |
Bauß 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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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: |
Myo7a/Myo7a<4626SB> |
Background: |
involves: BALB/c * 47BS/Rl * C3HeB/FeJ * CBA/Ca |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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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 |
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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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Strain |
Attribute String: |
inversion, mutant stock, chemically induced mutation, radiation induced mutation, chromosome aberration |
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Publication |
First Author: |
Grati M |
Year: |
2011 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. |
Volume: |
108 |
Issue: |
28 |
Pages: |
11476-81 |
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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 |
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Publication |
First Author: |
Fernández-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: |
Gilels F |
Year: |
2013 |
Journal: |
J Neurosci |
Title: |
Mutation of Foxo3 causes adult onset auditory neuropathy and alters cochlear synapse architecture in mice. |
Volume: |
33 |
Issue: |
47 |
Pages: |
18409-24 |
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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: |
Xiong A |
Year: |
2018 |
Journal: |
J Biol Chem |
Title: |
The shaker-1 mouse myosin VIIa deafness mutation results in a severely reduced rate of the ATP hydrolysis step. |
Volume: |
293 |
Issue: |
3 |
Pages: |
819-829 |
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Publication |
First Author: |
Liu Y |
Year: |
2018 |
Journal: |
J Cell Sci |
Title: |
Unconventional myosin VIIA promotes melanoma progression. |
Volume: |
131 |
Issue: |
4 |
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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: |
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: |
Chang B |
Year: |
2024 |
Journal: |
MGI Direct Data Submission |
Title: |
The retinal cone dysfunction mutation. |
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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: |
Weil D |
Year: |
1997 |
Journal: |
Nat Genet |
Title: |
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. |
Volume: |
16 |
Issue: |
2 |
Pages: |
191-3 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
461
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Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
461
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Fragment?: |
false |
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