Cdh23^v-ngt

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Species

Mus musculus

Symbol

Cdh23^v-ngt

Category

allele

Allele of gene

Cdh23

Transgenic Constructs

None

Synonyms

None

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations