Tpp1<tm1Plob> Targeted Allele Detail MGI Mouse (MGI:3521972)

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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: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)

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