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Cdh23 Gene Detail
Summary
  • Symbol
    Cdh23
  • Name
    cadherin related 23 (otocadherin)
  • Synonyms
    4930542A03Rik, ahl, bob, mdfw, nmf112, nmf181, nmf252, sals, USH1D
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890219
    NCBI Gene: 22295
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:60138527-60532269 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 30.11 cM
  • Mapping Data
    44 experiments
Strain
Comparison
more
  • SNPs within 2kb
    11207 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890219
 protein coding gene Chr10:60138527-60532291 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017268
 protein coding gene Chr10:59529303-59943432 (-)
A/J MGP_AJ_G0017246
 protein coding gene Chr10:57784152-58184550 (-)
AKR/J MGP_AKRJ_G0017206
 protein coding gene Chr10:59289585-59695862 (-)
BALB/cJ MGP_BALBcJ_G0017206
 protein coding gene Chr10:57867529-58261499 (-)
C3H/HeJ MGP_C3HHeJ_G0017029
 protein coding gene Chr10:59205746-59607454 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017664
 protein coding gene Chr10:61662415-62092647 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015355
 protein coding gene Chr10:54775949-55168176 (-)
CAST/EiJ MGP_CASTEiJ_G0016600
 protein coding gene Chr10:59158928-59579487 (-)
CBA/J MGP_CBAJ_G0017001
 protein coding gene Chr10:63892607-64355195 (-)
DBA/2J MGP_DBA2J_G0017106
 protein coding gene Chr10:57085661-57476618 (-)
FVB/NJ MGP_FVBNJ_G0017100
 protein coding gene Chr10:56322084-56718794 (-)
LP/J MGP_LPJ_G0017181
 protein coding gene Chr10:59922122-60361823 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017128
 protein coding gene Chr10:66364928-66784384 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017702
 protein coding gene Chr10:59096275-59504137 (-)
PWK/PhJ MGP_PWKPhJ_G0016383
 protein coding gene Chr10:56894303-57294864 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016166
 protein coding gene Chr10:58433301-58838318 (-)
WSB/EiJ MGP_WSBEiJ_G0016664
 protein coding gene Chr10:59020076-59426466 (-)



Homology
more
  • Human Ortholog
    CDH23, cadherin related 23
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CDH23, cadherin related 23
  • Synonyms
    CDHR23, PITA5, USH1D
  • Links
    NCBI Gene ID: 64072
    neXtProt AC: NX_Q9H251
    UniProt: Q9H251

  • Chr Location
    10q22.1; chr10:71396920-71815947 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Cdh23 mouse models; 4 with human CDH23 associations

Human Disease Mouse Models
      
IDs
 View 3 models
IDs
 View 11 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    15 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    108 phenotypes from 27 alleles in 36 genetic backgrounds
    15 phenotypes from multigenic genotypes
    3 images
    181 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    64
  • GO References
    42
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    792
  • Tissues
    35
  • cDNA Data
    17
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000012819 Ensembl Gene Model | MGI Sequence Detail 393743 C57BL/6J ±  kb
    transcript ENSMUST00000105461 Ensembl | MGI Sequence Detail 11096 Not Applicable  
    polypeptide ENSMUSP00000101101 Ensembl | MGI Sequence Detail 3354 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      Genomic 3
      cDNA 17
      Primer pair 7

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1223, MGD-MRK-15378, MGD-MRK-1608, MGD-MRK-1686, MGI:1202391, MGI:1914900, MGI:2663822, MGI:2680535, MGI:3032504, MGI:3708134, MGI:87972, MGI:88186, MGI:88219, MGI:98921
    References
    more
    • Summaries
      All 264
      Developmental Gene Expression 18
      Diseases 5
      Gene Ontology 42
      Phenotypes 181
    • Earliest
      J:300 Snell GD, Linkage of jittery and waltzing in the mouse. J Hered. 1945;36(9):279-80
    • Latest
      J:359106 Strelkova OS, et al., PKHD1L1 is required for stereocilia bundle maintenance, durable hearing function and resilience to noise exposure. Commun Biol. 2024 Nov 1;7(1):1423
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory