Primary Identifier | MGI:2154549 | Allele Type | Spontaneous |
Gene | Cdh23 | Inheritance Mode | Recessive |
Strain of Origin | ICR | Is Recombinase | false |
Is Wild Type | false |
molecularNote | A G-to-A substitution in the 3' end of intron 2 in splice acceptor site CAG-GT effectively eliminating it but at the same time creating a new acceptor that moves the splice junction one base downstream (AAG-T) into exon 3. The resulting mRNA lacks the single G nucleotide from the start of exon 3 (part of codon 49), causing a frameshift and premature termination of the encoded protein. |