Ap2s1m3Rvt
Chemically induced Allele Detail
|
Symbol: |
Ap2s1m3Rvt |
Name: |
adaptor-related protein complex 2, sigma 1 subunit; mutation 3, Rajesh V Thakker |
MGI ID: |
MGI:6401510 |
Synonyms: |
Aps2s1del17 |
Gene: |
Ap2s1 Location: Chr7:16472369-16483215 bp, + strand Genetic Position: Chr7, 9.15 cM
|
Alliance: |
Ap2s1m3Rvt page
|
|
|
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)
|
|
|
View phenotypes and curated references for all genotypes (concatenated display).
|
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: |
14 strains or lines available
|
|
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) |
|