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Psaptm4.1Ggb
Targeted Allele Detail
Summary
Symbol: Psaptm4.1Ggb
Name: prosaposin; targeted mutation 4.1, Gregory A Grabowski
MGI ID: MGI:5510529
Synonyms: AB-
Gene: Psap  Location: Chr10:60113449-60138376 bp, + strand  Genetic Position: Chr10, 30.02 cM
Alliance: Psaptm4.1Ggb page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:198242
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsNucleotide substitutions result in the amino acid substitution of Cys 4 of saposins A and B located in exon 4 (saposin A domain) and exon 7 (saposin B domain) with phenylalanine. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted upstream of the modified exon 7. Western blot analysis confirmed the absence of saponin A and B, overexpression of saponin C and normal expression of saponin D in the cerebrum and liver. (J:198242)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
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:198242 Sun Y, et al., Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice. Hum Mol Genet. 2013 Jun 15;22(12):2435-50
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