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Targeted Allele Detail
Symbol: Psaptm2Suz
Name: prosaposin; targeted mutation 2, Kunihiko Suzuki
MGI ID: MGI:2183897
Synonyms: saposin A-
Gene: Psap  Location: Chr10:60277627-60302594 bp, + strand  Genetic Position: Chr10, 30.02 cM
Germline Transmission:  Earliest citation of germline transmission: J:78223
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
Mutation detailsAn 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 saposin A 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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:  9 strains or lines available
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:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.0
The Jackson Laboratory