Tpp1^tm1Plob
Targeted Allele Detail

Summary

• Symbol: Tpp1^tm1Plob
• Name: tripeptidyl peptidase I; targeted mutation 1, Peter Lobel and David Sleat
• MGI ID: MGI:3521972
• Synonyms: CLN2^-, neo^insArg446His, Tpp1^-
• Gene: Tpp1 Location: Chr7:105394018-105401442 bp, - strand Genetic Position: Chr7, 55.97 cM
• Alliance: Tpp1^tm1Plob page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:94884
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: A floxed neo cassette was inserted into intron 11 and a missense mutation causing Arg446His was engineered within exon 11. Northern blot and RT-PCR analysis revealed that most of the mutant transcripts were mis-spliced and an enzyme assay for the gene product (tripeptidyl peptidase I) revealed no detectable activity. (J:94884)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Tpp1 Mutation: 46 strains or lines available

References

• Original: J:94884 Sleat DE, et al., A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. J Neurosci. 2004 Oct 13;24(41):9117-26
• All: 15 reference(s)