Ap2s1^m3Rvt

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Species

Mus musculus

Symbol

Ap2s1^m3Rvt

Category

allele

Allele of gene

Ap2s1

Transgenic Constructs

None

Synonyms

• Aps2s1^del17

Description

ENU treatment caused a T>C substitution in intron 2, changing the exon 2-intron 2 splice donor site G-GT to G-GC. This results in alternatively spliced transcripts that uses a cryptic splice donor upstream and lack the last 51 nucleotides of exon 2, thus deleting 17 amino acids (amino acids 35-51) from the encoded peptide. This in-frame deletion affects the alpha1 helix, the alpha1-beta3 loop and the beta3 strand.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations