Psap^tm3.1Ggb
Targeted Allele Detail

Summary

• Symbol: Psap^tm3.1Ggb
• Name: prosaposin; targeted mutation 3.1, Gregory A Grabowski
• MGI ID: MGI:4418521
• Synonyms: Psap^C-
• Gene: Psap Location: Chr10:60113449-60138376 bp, + strand Genetic Position: Chr10, 30.02 cM
• Alliance: Psap^tm3.1Ggb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:155864
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: A nucleotide substitution was created that results in changing cysteine codon 5 (with respect to Saposin C) in exon 11 to proline and a loxP site flanked neomycin resistance gene cassette was inserted into intron 9. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation eliminates one of the encoded protein's three disulfide bridges and results in a selective deficiency in Saposin C. The absence of Saposin C was confirmed by western blot analysis on homozygous fibroblasts; the expression of Saposin A, B and D (the other forms post-translationally generated from this locus) was not affected. (J:155864)

Expression

In Structures Affected by this Mutation:

5 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:155864 Sun Y, et al., Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse. Hum Mol Genet. 2010 Feb 15;19(4):634-47
• All: 6 reference(s)