About   Help   FAQ
Ppt1tm1Hof
Targeted Allele Detail
Nomenclature
Symbol: Ppt1tm1Hof
Name: palmitoyl-protein thioesterase 1; targeted mutation 1, Sandra L Hoffmann
MGI ID: MGI:2176390
Synonyms: Cln1 mut, PPT1-, PPT1-KO
Gene: Ppt1  Location: Chr4:122836242-122859175 bp, + strand  Genetic Position: Chr4, 57.27 cM, cytoband D1-D3
Neuronal loss is Ppt1tm1Hof/Ppt1tm1Hof 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 detailsPart 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)
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
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:  6 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:  23 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/25/2015
MGI 5.21
The Jackson Laboratory