Psap^tm2Ggb
Targeted Allele Detail

Summary

• Symbol: Psap^tm2Ggb
• Name: prosaposin; targeted mutation 2, Gregory A Grabowski
• MGI ID: MGI:3802531
• Synonyms: Psap^B-, sapB^C240F
• Gene: Psap Location: Chr10:60113449-60138376 bp, + strand Genetic Position: Chr10, 30.02 cM
• Alliance: Psap^tm2Ggb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:137650
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A nucleotide substitution resulting in the amino-acid substitution of the fourth cysteine to phenylalanine in exon 7 was knocked into the open reading frame along with a floxed neo cassette that was subsequently removed by germ line, cre-mediated recombination. The absence of saposin B was confirmed by western blot analysis on liver extracts but the expression of saposin A, C and D (the other forms post-translationally generated from this locus) was not affected. (J:137650)

Disease models

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:137650 Sun Y, et al., Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice. Hum Mol Genet. 2008 Aug 1;17(15):2345-56
• All: 3 reference(s)