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Allele : Cdh23<v-ngt> cadherin related 23 (otocadherin); waltzer Niigata

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.
  • mutations:
  • Single point mutation
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories

Trail: Allele