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Targeted Allele Detail
Symbol: Psaptm2Ggb
Name: prosaposin; targeted mutation 2, Gregory A Grabowski
MGI ID: MGI:3802531
Synonyms: PsapB-, sapBC240F
Gene: Psap  Location: Chr10:60277627-60302594 bp, + strand  Genetic Position: Chr10, 30.02 cM
Germline Transmission:  Earliest citation of germline transmission: J:137650
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Allele Type:    Targeted (Not Specified)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA nucleotide substitution resulting in the amino-acid substitution of the fourth cysteine to phenylalanine in exon 7 was knocked into the open reading frame along with a floxed neo cassette that was subsequently removed by germ line, cre-mediated recombination. The absence of saposin B was confirmed by western blot analysis on liver extracts but the expression of saposin A, C and D (the other forms post-translationally generated from this locus) was not affected. (J:137650)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 7 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 Psap Mutation:  24 strains or lines available
Original:  J:137650 Sun Y, et al., Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice. Hum Mol Genet. 2008 Aug 1;17(15):2345-56
All:  3 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
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