Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Cadherin-23 (CDH23) is an adhesion protein that contains several calcium dependent extracellular (EC) domains. It 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 []. CDH23 is part of the tip-links, oblique filaments that interconnect the stereocilia of the hair bundle []. CDH23 is associated with Usher syndrome type 1 (USH1D), isolated deafness (DFNB12) in humans, and deafness and circling behavior in waltzer mice [, ]. |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Lagziel A |
Year: |
2005 |
Journal: |
Dev Biol |
Title: |
Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. |
Volume: |
280 |
Issue: |
2 |
Pages: |
295-306 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Caberlotto E |
Year: |
2011 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. |
Volume: |
108 |
Issue: |
14 |
Pages: |
5825-30 |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Publication |
First Author: |
Balan S |
Year: |
2021 |
Journal: |
Schizophr Bull |
Title: |
Role of an Atypical Cadherin Gene, Cdh23 in Prepulse Inhibition, and Implication of CDH23 in Schizophrenia. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Sengupta S |
Year: |
2009 |
Journal: |
J Biol Chem |
Title: |
EHD4 and CDH23 are interacting partners in cochlear hair cells. |
Volume: |
284 |
Issue: |
30 |
Pages: |
20121-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wilson SM |
Year: |
2001 |
Journal: |
Genomics |
Title: |
Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. |
Volume: |
74 |
Issue: |
2 |
Pages: |
228-33 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kane KL |
Year: |
2012 |
Journal: |
Hear Res |
Title: |
Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice. |
Volume: |
283 |
Issue: |
1-2 |
Pages: |
80-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Harris BS |
Year: |
2005 |
Journal: |
MGI Direct Data Submission |
Title: |
Waltzer 7 Jackson, a remutation of the Cdh23 gene |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Watson CJ |
Year: |
2013 |
Journal: |
Hear Res |
Title: |
A new Atp2b2 deafwaddler allele, dfw(i5), interacts strongly with Cdh23 and other auditory modifiers. |
Volume: |
304 |
|
Pages: |
41-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu S |
Year: |
2012 |
Journal: |
Gene |
Title: |
A mutation in the cdh23 gene causes age-related hearing loss in Cdh23(nmf308/nmf308) mice. |
Volume: |
499 |
Issue: |
2 |
Pages: |
309-17 |
|
•
•
•
•
•
|
Publication |
First Author: |
Johnson KR |
Year: |
2010 |
Journal: |
Hear Res |
Title: |
Separate and combined effects of Sod1 and Cdh23 mutations on age-related hearing loss and cochlear pathology in C57BL/6J mice. |
Volume: |
268 |
Issue: |
1-2 |
Pages: |
85-92 |
|
•
•
•
•
•
|
Publication |
First Author: |
Manji SS |
Year: |
2011 |
Journal: |
Am J Pathol |
Title: |
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice. |
Volume: |
179 |
Issue: |
2 |
Pages: |
903-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Libby RT |
Year: |
2003 |
Journal: |
Exp Eye Res |
Title: |
Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. |
Volume: |
77 |
Issue: |
6 |
Pages: |
731-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kane K |
Year: |
2008 |
Journal: |
MGI Direct Data Submission |
Title: |
Jackson waltzer 11J, a new spontaneous mutation in the Cdh23 gene |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Han F |
Year: |
2012 |
Journal: |
Pharmacogenomics J |
Title: |
A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs. |
Volume: |
12 |
Issue: |
1 |
Pages: |
30-44 |
|
•
•
•
•
•
|
Publication |
First Author: |
Johnson KR |
Year: |
2008 |
Journal: |
Genomics |
Title: |
A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice. |
Volume: |
92 |
Issue: |
4 |
Pages: |
219-25 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rzadzinska AK |
Year: |
2009 |
Journal: |
Neuroscience |
Title: |
Presence of interstereocilial links in waltzer mutants suggests Cdh23 is not essential for tip link formation. |
Volume: |
158 |
Issue: |
2 |
Pages: |
365-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Johnson KR |
Year: |
2017 |
Journal: |
Sci Rep |
Title: |
Effects of Cdh23 single nucleotide substitutions on age-related hearing loss in C57BL/6 and 129S1/Sv mice and comparisons with congenic strains. |
Volume: |
7 |
|
Pages: |
44450 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6169486 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689419 |
Pattern: |
Not Specified |
Stage: |
TS19 |
Assay Id: |
MGI:6189941 |
Age: |
embryonic day 11.5 |
|
|
Specimen Label: |
Table S2 - E11.5 - Cdh23 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6169486 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1689424 |
Pattern: |
Not Specified |
Stage: |
TS24 |
Assay Id: |
MGI:6189941 |
Age: |
embryonic day 15.5 |
|
|
Specimen Label: |
Table S2 - E15.5 - Cdh23 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6169486 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1689426 |
Pattern: |
Not Specified |
Stage: |
TS26 |
Assay Id: |
MGI:6189941 |
Age: |
embryonic day 18.5 |
|
|
Specimen Label: |
Table S2 - E18.5 - Cdh23 |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6169486 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6189941 |
Age: |
postnatal day 14 |
|
|
Specimen Label: |
Table S2 - P14 - Cdh23 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6169486 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6189941 |
Age: |
postnatal day 28 |
|
|
Specimen Label: |
Table S2 - P28 - Cdh23 |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6169486 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689421 |
Pattern: |
Not Specified |
Stage: |
TS21 |
Assay Id: |
MGI:6189941 |
Age: |
embryonic day 13.5 |
|
|
Specimen Label: |
Table S2 - E13.5 - Cdh23 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6169486 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6189941 |
Age: |
postnatal day 4 |
|
|
Specimen Label: |
Table S2 - P4 - Cdh23 |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Holme RH |
Year: |
2004 |
Journal: |
J Assoc Res Otolaryngol |
Title: |
Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation. |
Volume: |
5 |
Issue: |
1 |
Pages: |
66-79 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3354
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
347
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3321
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3352
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3352
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
283
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3283
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3353
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3267
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhao T |
Year: |
2021 |
Journal: |
J Neurosci Res |
Title: |
Phenotypic differences in the inner ears of CBA/CaJ and C57BL/6J mice carrying missense and single base pair deletion mutations in the Cdh23 gene. |
Volume: |
99 |
Issue: |
10 |
Pages: |
2743-2758 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li N |
Year: |
2020 |
Journal: |
Neural Plast |
Title: |
Alternative Splicing of Cdh23 Exon 68 Is Regulated by RBM24, RBM38, and PTBP1. |
Volume: |
2020 |
|
Pages: |
8898811 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang L |
Year: |
2020 |
Journal: |
Front Genet |
Title: |
Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient. |
Volume: |
11 |
|
Pages: |
422 |
|
•
•
•
•
•
|
Publication |
First Author: |
Noben-Trauth K |
Year: |
2003 |
Journal: |
Nat Genet |
Title: |
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. |
Volume: |
35 |
Issue: |
1 |
Pages: |
21-3 |
|
•
•
•
•
•
|
Publication |
First Author: |
Miyasaka Y |
Year: |
2013 |
Journal: |
Exp Anim |
Title: |
Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice. |
Volume: |
62 |
Issue: |
4 |
Pages: |
333-46 |
|
•
•
•
•
•
|
Publication |
First Author: |
Prince L |
Year: |
2018 |
Journal: |
MGI Direct Data Submission |
Title: |
Mutagenetix entry for hersey. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Burghard AL |
Year: |
2019 |
Journal: |
Neurobiol Aging |
Title: |
Mice heterozygous for the Cdh23/Ahl1 mutation show age-related deficits in auditory temporal processing. |
Volume: |
81 |
|
Pages: |
47-57 |
|
•
•
•
•
•
|
Publication |
First Author: |
Johnson KR |
Year: |
2005 |
Journal: |
Genomics |
Title: |
The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. |
Volume: |
85 |
Issue: |
5 |
Pages: |
582-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Di Palma F |
Year: |
2001 |
Journal: |
Gene |
Title: |
Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). |
Volume: |
281 |
Issue: |
1-2 |
Pages: |
31-41 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bork JM |
Year: |
2001 |
Journal: |
Am J Hum Genet |
Title: |
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. |
Volume: |
68 |
Issue: |
1 |
Pages: |
26-37 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zheng QY |
Year: |
2012 |
Journal: |
Hum Mol Genet |
Title: |
Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. |
Volume: |
21 |
Issue: |
11 |
Pages: |
2588-98 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rogalla MM |
Year: |
2020 |
Journal: |
eNeuro |
Title: |
Aging But Not Age-Related Hearing Loss Dominates the Decrease of Parvalbumin Immunoreactivity in the Primary Auditory Cortex of Mice. |
Volume: |
7 |
Issue: |
3 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Keithley EM |
Year: |
2004 |
Journal: |
Hear Res |
Title: |
Age-related hearing loss and the ahl locus in mice. |
Volume: |
188 |
Issue: |
1-2 |
Pages: |
21-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mathews CE |
Year: |
1999 |
Journal: |
Diabetes |
Title: |
Resistance of ALR/Lt islets to free radical-mediated diabetogenic stress is inherited as a dominant trait. |
Volume: |
48 |
Issue: |
11 |
Pages: |
2189-96 |
|
•
•
•
•
•
|
Publication |
First Author: |
Davis RR |
Year: |
2001 |
Journal: |
Hear Res |
Title: |
Genetic basis for susceptibility to noise-induced hearing loss in mice. |
Volume: |
155 |
Issue: |
1-2 |
Pages: |
82-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Vázquez AE |
Year: |
2004 |
Journal: |
Hear Res |
Title: |
Evaluating cochlear function and the effects of noise exposure in the B6.CAST+Ahl mouse with distortion product otoacoustic emissions. |
Volume: |
194 |
Issue: |
1-2 |
Pages: |
87-96 |
|
•
•
•
•
•
|
Publication |
First Author: |
Murillo-Cuesta S |
Year: |
2015 |
Journal: |
Front Aging Neurosci |
Title: |
Transforming growth factor β1 inhibition protects from noise-induced hearing loss. |
Volume: |
7 |
|
Pages: |
32 |
|
•
•
•
•
•
|
Publication |
First Author: |
Di Palma F |
Year: |
2001 |
Journal: |
Nat Genet |
Title: |
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. |
Volume: |
27 |
Issue: |
1 |
Pages: |
103-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yonezawa S |
Year: |
2006 |
Journal: |
Hum Mutat |
Title: |
Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region. |
Volume: |
27 |
Issue: |
1 |
Pages: |
88-97 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mianné J |
Year: |
2016 |
Journal: |
Genome Med |
Title: |
Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair. |
Volume: |
8 |
Issue: |
1 |
Pages: |
16 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mock BE |
Year: |
2016 |
Journal: |
Neurobiol Aging |
Title: |
Differential effects of Cdh23(753A) on auditory and vestibular functional aging in C57BL/6J mice. |
Volume: |
43 |
|
Pages: |
13-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Si Y |
Year: |
2022 |
Journal: |
eNeuro |
Title: |
High-Frequency Hearing Is Required to Compute a Topographic Map of Auditory Space in the Mouse Superior Colliculus. |
Volume: |
9 |
Issue: |
3 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Elledge HM |
Year: |
2010 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members. |
Volume: |
107 |
Issue: |
23 |
Pages: |
10708-12 |
|
•
•
•
•
•
|
Publication |
First Author: |
Johnson KR |
Year: |
2006 |
Journal: |
Brain Res |
Title: |
Strain background effects and genetic modifiers of hearing in mice. |
Volume: |
1091 |
Issue: |
1 |
Pages: |
79-88 |
|
•
•
•
•
•
|
Publication |
First Author: |
Noben-Trauth K |
Year: |
2010 |
Journal: |
PLoS One |
Title: |
Phenotype and genetics of progressive sensorineural hearing loss (Snhl1) in the LXS set of recombinant inbred strains of mice. |
Volume: |
5 |
Issue: |
7 |
Pages: |
e11459 |
|
•
•
•
•
•
|
Publication |
First Author: |
Atsuta Y |
Year: |
2024 |
Journal: |
Dev Cell |
Title: |
Direct reprogramming of non-limb fibroblasts to cells with properties of limb progenitors. |
Volume: |
59 |
Issue: |
3 |
Pages: |
415-430.e8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bermúdez-Muñoz JM |
Year: |
2020 |
Journal: |
Aging Cell |
Title: |
G6PD overexpression protects from oxidative stress and age-related hearing loss. |
Volume: |
19 |
Issue: |
12 |
Pages: |
e13275 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lewis MA |
Year: |
2020 |
Journal: |
Dis Model Mech |
Title: |
Hearing impairment due to Mir183/96/182 mutations suggests both loss and gain of function effects. |
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A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice. |
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Title: |
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J Neurosci |
Title: |
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Title: |
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Title: |
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Proc Natl Acad Sci U S A |
Title: |
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. |
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Hum Mol Genet |
Title: |
Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23. |
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Hearing loss associated with the modifier of deaf waddler (mdfw) locus corresponds with age-related hearing loss in 12 inbred strains of mice. |
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A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart. |
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J Neurosci |
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Cockayne syndrome group B (Csb) and group a (Csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice. |
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