Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Ppt1tm1.1Dprc
Name:	palmitoyl-protein thioesterase 1; targeted mutation 1.1, David Pearce
MGI ID:	MGI:5585301
Synonyms:	Cln1R151X
Gene:	Ppt1  Location: Chr4:122730035-122752968 bp, + strand  Genetic Position: Chr4, 57.27 cM, cytoband D1-D3
Alliance:	Ppt1tm1.1Dprc page

Germline Transmission:	Earliest citation of germline transmission: J:213552
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129S6/SvEvTac x C57BL/6J

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Nucleotide substitutions   Mutation details: A targeting construct was designed to insert a C to T point mutation in exon 5 of the gene, resulting in a non-sense mutation, R151X, commonly found in humans with neuronal ceroid lipofuscinoses (NCLs). A loxP- and frt-flanked neomycin (neo) resistance cassette was inserted downstream of exon 5. Cre-mediated recombination removed the floxed neomycin cassette. (J:213552)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Ppt1 Mutation:	18 strains or lines available

Original:	J:213552 Miller JN, et al., The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. Hum Mol Genet. 2015 Jan 1;24(1):185-96
All:	1 reference(s)