Mouse Line Cdh23  

See Also

• At the Jackson Site: JAX Stock 002552

Cadherin 23 (otocadherin) (Cdh23) on chromosome 10 30.3 cM

Any links immediately below search for related mouse lines on this site, or additional detail on other sites. (Hover your mouse over each link for more information.)

JAXmice Strain Name: C57BL/6J-Cdh23^v-2J/J  
Accession Number: NM_023370  
UniGene ID: 370214
UniGene Gene Name: Cadherin 23 (otocadherin)  
UniGene Gene Symbol: Cdh23
Chromosome:   10 30.3 cM
Status: Repository-Live

Phenotype: ENS appearence normal

Comments:

The vAlb, v2J and v6J alleles at the waltzer locus have been shown to be mutations of a unique cadherin gene, Cdh23, whose product is referred to as otocadherin. Analysis of a 10.5-kb Cdh23 cDNA indicated that the gene encodes a 3,354 amino acid, single-pass transmembrane protein whose extracellular segment includes 27 regularly spaced ectodomains. The protein sequence is most similar to a group of four Drosophila melanogaster proteins including the cell adhesion protein encoded by the fat (ft) gene. The Cdh23v-2J mutation is a G->A transition at the first nucleotide of intron 32 that alters the donor splice site. Four aberrantly spliced transcripts including intronic segments were identified, three containing premature in-frame stop codons and one having an in-frame deletion. Normally spliced transcripts were also present at low levels (5%). Cdh23 mRNA is expressed at moderate to high levels in a number of adult tissues and in the embryo from embryonic day E11 through E17. In the organ of Corti of 4 day old mice, the protein is expressed specifically in the inner and outer hair cells of the neurosensory epithelium. This is consistent with the disorganization of stereocilliar bundles that is the primary defect in waltzer mutants. (Di Palma et al.2001.) Mutations of the orthologous human gene, CDH23, have been identified in patients with nonsyndromic autosomal recessive deafness 12 (DFNB12) and with Usher syndrome type 1D (USH1D)

Images

Currently only one image is associated with this line:

• Cdh23 ENS (143KB)
  

Database: This record was created Tue Apr 19 16:40:22 2005. It was most recently modified about 237 weeks ago.

Administrative Options (log in required)

Mouse Line #11: edit (img: manage/view/upload)
Edit mouse line or browse for a line to edit