About   Help   FAQ
Due to maintenance, access to MGI may be intermittent 7:30-8:30 AM EDT Thursday, May 28.
Pik3ap1m2Btlr
Chemically induced Allele Detail
Nomenclature
Symbol: Pik3ap1m2Btlr
Name: phosphoinositide-3-kinase adaptor protein 1; mutation 2, Bruce Beutler
MGI ID: MGI:6114668
Synonyms: sooni
Gene: Pik3ap1  Location: Chr19:41272541-41385102 bp, - strand  Genetic Position: Chr19, 34.61 cM, cytoband D1
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced T to C transition at base pair 41,327,909 (v38) on chromosome 19, or base pair 57,162 in the GenBank genomic region NC_000085. The mutation corresponds to residue 1,014 in the NM_031376.3 mRNA sequence in exon 6 of 17 total exons. The mutation results in a serine (S) to proline (P) substitution at position 305 (S305P) in the protein. (J:255271)
Inheritance:    Recessive
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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 Pik3ap1 Mutation:  33 strains or lines available
References
Original:  J:255271 Choi JH, et al., Mutagenetix entry for sooni. MGI Direct Data Submission. 2018;
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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/19/2020
MGI 6.15
The Jackson Laboratory