Psap^tm1Suz
Targeted Allele Detail

Summary

• Symbol: Psap^tm1Suz
• Name: prosaposin; targeted mutation 1, Kunihiko Suzuki
• MGI ID: MGI:1888378
• Synonyms: prosaposin^-, PS^-, SAP-
• Gene: Psap Location: Chr10:60113449-60138376 bp, + strand Genetic Position: Chr10, 30.02 cM
• Alliance: Psap^tm1Suz page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:33477
• Parent Cell Line: BK4 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 3 was disrupted by the insertion of a neomycin selection cassette. Northern blot analysis of tissues obtained from homozygous mutant mice showed an absence Saposin precursor mRNA. Homozygous mice lack all four types of sphingolipid activator proteins (A, B, C, and D). (J:33477)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	24 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:33477 Fujita N, et al., Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum Mol Genet. 1996 Jun;5(6):711-25
• All: 30 reference(s)