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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
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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 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)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory