Primary Identifier | MGI:1857310 | Allele Type | Chemically induced (other) |
Gene | Cdh23 | Inheritance Mode | Recessive |
Strain of Origin | Not Specified | Is Recombinase | false |
Is Wild Type | false |
molecularNote | A C-to-T transition at coding nucleotide 1635 in glycine codon 545 does not alter the amino acid sequence of the encoded protein directly. However, RT-PCR analysis demonstrated that aberrant transcripts are produced from this allele, because the mutation creates an ectopic donor splice site G-GT (from glycine codon GGC). Using this splice site leads to the loss of the last 119 bp of the exon and subsequent frameshift and premature stop codon. |