Tpp1^tm1.1Dprc
Targeted Allele Detail

Summary

• Symbol: Tpp1^tm1.1Dprc
• Name: tripeptidyl peptidase I; targeted mutation 1.1, David Pearce
• MGI ID: MGI:5901874
• Synonyms: CLN2^R207X
• Gene: Tpp1 Location: Chr7:105394018-105401442 bp, - strand Genetic Position: Chr7, 55.97 cM
• Alliance: Tpp1^tm1.1Dprc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:241344
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129 x C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The targeting vector is designed to insert an FRT-flanked neomycin (neo) resistance cassette downstream of exon 6 of the gene. A C to T transition was introduced in exon 6, corresponding to human amino acid 208, resulting in a nonsense mutation, R207X, commonly found in patients with late infantile Neuronal Ceroid Lipofuscinoses (NCL) or Batten disease. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:241344)

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 Tpp1 Mutation: 46 strains or lines available

References

• Original: J:241344 Geraets RD, et al., A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies. PLoS One. 2017;12(5):e0176526
• All: 3 reference(s)