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Targeted Allele Detail
Symbol: Psaptm1Ggb
Name: prosaposin; targeted mutation 1, Gregory A Grabowski
MGI ID: MGI:3711720
Synonyms: CD-
Gene: Psap  Location: Chr10:60277627-60302594 bp, + strand  Genetic Position: Chr10, 30.02 cM
Germline Transmission:  Earliest citation of germline transmission: J:121761
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/SvEv
Allele Type:    Targeted (Null/knockout)
Mutation:    Nucleotide substitutions
Mutation detailsThe fifth cysteines of saposin C and D were mutated in a targeting vector. The cysteine in exon 11 was changed to a proline to disrupt saposin C, and the cysteine in exon 13 was changed to serine to disrupt saposin D. A floxed neo was included in the vector and was subsequently removed via cre mediated recombination. (J:121761)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 6 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:121761 Sun Y, et al., Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking. Hum Mol Genet. 2007 Apr 15;16(8):957-71
All:  4 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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