Psap^tm2Suz
Targeted Allele Detail

Summary

• Symbol: Psap^tm2Suz
• Name: prosaposin; targeted mutation 2, Kunihiko Suzuki
• MGI ID: MGI:2183897
• Synonyms: saposin A^-
• Gene: Psap Location: Chr10:60113449-60138376 bp, + strand Genetic Position: Chr10, 30.02 cM
• Alliance: Psap^tm2Suz page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:78223
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: An amino acid substitution was introduced into the saposin A domain of the gene utilizing a Cre/loxP system. Specifically, the mutation was introduced into exon 4 of the gene, changing the fourth cysteine in the saposin A domain to phenylalanine (C106F). This resulted in the loss of one of three conserved disulfide bonds within the protein. Animals carrying this allele produced stable mRNA of normal length. (J:78223)

Disease models

Expression

In Structures Affected by this Mutation:

10 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:78223 Matsuda J, et al., A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse. Hum Mol Genet. 2001 May 15;10(11):1191-9
• All: 7 reference(s)