Tpp1^tm1.1Plob
Targeted Allele Detail

Summary

• Symbol: Tpp1^tm1.1Plob
• Name: tripeptidyl peptidase I; targeted mutation 1.1, Peter Lobel and David Sleat
• MGI ID: MGI:3795216
• Synonyms: neo^delArg446His, Tpp1^f
• Gene: Tpp1 Location: Chr7:105394018-105401442 bp, - strand Genetic Position: Chr7, 55.97 cM
• Alliance: Tpp1^tm1.1Plob page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:136105
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Nucleotide substitutions
• Mutation details: The neo cassette was removed by germ line, cre-mediated recombination leaving the nucleotide substitution that results in the amino acid substitution of a histidine for an arganine at position 446 (Arg446His) intact. This allele is a hypomorph. (J:136105)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Tpp1 Mutation: 48 strains or lines available

References

• Original: J:136105 Sleat DE, et al., Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. Mol Genet Metab. 2008 Jun;94(2):222-33
• All: 1 reference(s)