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Psaptm1Suz
Targeted Allele Detail
Summary
Symbol: Psaptm1Suz
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: Psaptm1Suz 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 detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 26 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory