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Ap2s1m3Rvt
Chemically induced Allele Detail
Summary
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
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  14 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/22/2024
MGI 6.24
The Jackson Laboratory