Psap^tm1Ggb
Targeted Allele Detail

Summary

• Symbol: Psap^tm1Ggb
• Name: prosaposin; targeted mutation 1, Gregory A Grabowski
• MGI ID: MGI:3711720
• Synonyms: CD^-
• Gene: Psap Location: Chr10:60113449-60138376 bp, + strand Genetic Position: Chr10, 30.02 cM
• Alliance: Psap^tm1Ggb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:121761
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/SvEv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: The 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)

Expression

In Structures Affected by this Mutation:

6 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: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)