Psap^tm2.1Juma
Targeted Allele Detail

Summary

• Symbol: Psap^tm2.1Juma
• Name: prosaposin; targeted mutation 2.1, Junko Matsuda
• MGI ID: MGI:6444205
• Synonyms: Psap^C384S, Sap-C^-
• Gene: Psap Location: Chr10:60113449-60138376 bp, + strand Genetic Position: Chr10, 30.02 cM
• Alliance: Psap^tm2.1Juma page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:283977
• 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 T to A nucleotide substitution resulting in an amino acid substitution of the fifth cysteine to serine at position 384 (p.C384S) in exon 11 was knocked into the open reading frame along with a floxed neo cassette that was then removed by cre-mediated recombination. This mutation eliminates one of this protein's three disulfide bridges and results in a selective deficiency in Saposin C. (J:283977)

Disease models

Expression

In Structures Affected by this Mutation:

2 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:283977 Yoneshige A, et al., A mutation in the saposin C domain of the sphingolipid activator protein (Prosaposin) gene causes neurodegenerative disease in mice. J Neurosci Res. 2010 Aug 1;88(10):2118-34
• All: 1 reference(s)