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| Nomenclature |
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Symbol:
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Tpp1tm1Plob
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Name:
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tripeptidyl peptidase I;
targeted mutation 1, Peter Lobel and David Sleat
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MGI ID: |
MGI:3521972 |
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Synonyms: |
CLN2-, neoinsArg446His |
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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:94884
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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-out) |
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Mutation: | |
Nucleotide substitutions |
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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)
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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: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
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All: |
6 reference(s)
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Analysis Tools
