Ap2s1^m3Rvt
Chemically induced Allele Detail

Summary

• Symbol: Ap2s1^m3Rvt
• Name: adaptor-related protein complex 2, sigma 1 subunit; mutation 3, Rajesh V Thakker
• MGI ID: MGI:6401510
• Synonyms: Aps2s1^del17
• Gene: Ap2s1 Location: Chr7:16472369-16483215 bp, + strand Genetic Position: Chr7, 9.15 cM
• Alliance: Ap2s1^m3Rvt page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: 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. (J:263143)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ap2s1 Mutation: 11 strains or lines available

References

• Original: J:263143 Gorvin CM, et al., N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice. JBMR Plus. 2017 May 2;1(1):3-15
• All: 1 reference(s)