Ppt1^tm1Aj
Targeted Allele Detail

Summary

• Symbol: Ppt1^tm1Aj
• Name: palmitoyl-protein thioesterase 1; targeted mutation 1, Anu Jalanko
• MGI ID: MGI:3527191
• Synonyms: Cln1^-, Ppt1^deltaex4, Ppt1Deltaex4
• Gene: Ppt1 Location: Chr4:122730035-122752968 bp, + strand Genetic Position: Chr4, 57.27 cM, cytoband D1-D3
• Alliance: Ppt1^tm1Aj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:95522
• Parent Cell Line: LW1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 4, encoding the active site, was replaced with a loxP flanked hygromycin B resistance cassette. Tranfection of ES cells with a cre-expressing plasmid resulted in the excision of the hygro. Brain tissue from mutants was analyzed by RT-PCR to show the presence of the altered transcript. Sequence analysis revealed a frameshift and a premature stop codon after exon 3. (J:95522)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	9 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 Ppt1 Mutation: 18 strains or lines available

References

• Original: J:95522 Jalanko A, et al., Mice with Ppt1(Deltaex4) mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons. Neurobiol Dis. 2005 Feb;18(1):226-41
• All: 8 reference(s)