Psap^tm4.1Ggb
Targeted Allele Detail

Summary

• Symbol: Psap^tm4.1Ggb
• Name: prosaposin; targeted mutation 4.1, Gregory A Grabowski
• MGI ID: MGI:5510529
• Synonyms: AB^-
• Gene: Psap Location: Chr10:60113449-60138376 bp, + strand Genetic Position: Chr10, 30.02 cM
• Alliance: Psap^tm4.1Ggb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:198242
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Nucleotide substitutions result in the amino acid substitution of Cys 4 of saposins A and B located in exon 4 (saposin A domain) and exon 7 (saposin B domain) with phenylalanine. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted upstream of the modified exon 7. Western blot analysis confirmed the absence of saponin A and B, overexpression of saponin C and normal expression of saponin D in the cerebrum and liver. (J:198242)

Expression

In Structures Affected by this Mutation:

3 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: 33 strains or lines available

References

• Original: J:198242 Sun Y, et al., Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice. Hum Mol Genet. 2013 Jun 15;22(12):2435-50
• All: 1 reference(s)