Psap^tm1Juma
Targeted Allele Detail

Summary

• Symbol: Psap^tm1Juma
• Name: prosaposin; targeted mutation 1, Junko Matsuda
• MGI ID: MGI:3521746
• Synonyms: D^-, sap D^-
• Gene: Psap Location: Chr10:60113449-60138376 bp, + strand Genetic Position: Chr10, 30.02 cM
• Alliance: Psap^tm1Juma page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:94408
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A C509S mutation was introduced to exon 13 to destroy one of the three disulfide bridges in the saposin D domain. A neo was removed from intron 14 via transient cre expression. RT-PCR indicated an absence of transcript in mutant mouse brains. (J:94408)

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Psap Mutation: 36 strains or lines available

References

• Original: J:94408 Matsuda J, et al., Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse. Hum Mol Genet. 2004 Nov 1;13(21):2709-23
• All: 4 reference(s)