Ppt1^tm1.1Dprc
Targeted Allele Detail

Summary

• Symbol: Ppt1^tm1.1Dprc
• Name: palmitoyl-protein thioesterase 1; targeted mutation 1.1, David Pearce
• MGI ID: MGI:5585301
• Synonyms: Cln1^R151X
• Gene: Ppt1 Location: Chr4:122730035-122752968 bp, + strand Genetic Position: Chr4, 57.27 cM, cytoband D1-D3
• Alliance: Ppt1^tm1.1Dprc page

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Ppt1 Mutation: 20 strains or lines available

References

• 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)