Ppt1^tm1Hof
Targeted Allele Detail

Summary

• Symbol: Ppt1^tm1Hof
• Name: palmitoyl-protein thioesterase 1; targeted mutation 1, Sandra L Hoffmann
• MGI ID: MGI:2176390
• Synonyms: Cln1 mut, PPT1-, PPT1-KO
• Gene: Ppt1 Location: Chr4:122730035-122752968 bp, + strand Genetic Position: Chr4, 57.27 cM, cytoband D1-D3
• Alliance: Ppt1^tm1Hof page

Neuronal loss is Ppt1^tm1Hof/Ppt1^tm1Hof mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:72931
• Parent Cell Line: SM1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Part of exon 9 was replaced with a neomycin selection cassette containing an in frame stop codon that is predicted to cause premature termination of the protein. Nothern blot analysis on RNA derived from brain and other tissues of heterozygous and homozygous mice demonstrated that a truncated transcript is produced from this allele. However, western blot analysis and activity assays confirmed that no functional protein is expressed from this allele in homozygous mice. (J:72931)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Ppt1 Mutation: 20 strains or lines available

References

• Original: J:72931 Gupta P, et al., Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Proc Natl Acad Sci U S A. 2001 Nov 20;98(24):13566-71
• All: 51 reference(s)