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| Nomenclature |
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Symbol:
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Tpp1tm1.1Plob
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Name:
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tripeptidyl peptidase I;
targeted mutation 1.1, Peter Lobel and David Sleat
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MGI ID: |
MGI:3795216 |
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Synonyms: |
neodelArg446His |
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Gene:
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Tpp1
Location:
Chr7:105744847-105752207 bp, - strand
Genetic Position: Chr7,
55.97 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:136105
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Parent Cell Line:
| W9.5/W95 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Nucleotide substitutions |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Tpp1 Mutation:
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4 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
