About   Help   FAQ
Psapm1Btlr
Chemically induced Allele Detail
Summary
Symbol: Psapm1Btlr
Name: prosaposin; mutation 1, Bruce Beutler
MGI ID: MGI:6268779
Synonyms: twerk
Gene: Psap  Location: Chr10:60113449-60138376 bp, + strand  Genetic Position: Chr10, 30.02 cM
Alliance: Psapm1Btlr page
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 G transversion at base pair 60,300,851 (v38) on chromosome 10, or base pair 23,224 in the GenBank genomic region NC_000076 encoding Psap. The mutation corresponds to residue 1,714 in the mRNA sequence NM_001146120 within exon 13 of 14 total exons. The mutation results in a cysteine to tryptophan substitution at amino acid 533 (C533W) in the PSAP protein. (J:267559)
Inheritance:    Recessive
Phenotypes
Loading...
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 Psap Mutation:  36 strains or lines available
References
Original:  J:267559 Prince L, et al., Mutagenetix entry for twerk. 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, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory