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

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
Loading...
hm1  Disease Model	Tpp1^tm1Plob/Tpp1^tm1Plob	B6.129S1-Tpp1^tm1Plob
hm2	Tpp1^tm1Plob/Tpp1^tm1Plob	involves: 129S1/Sv
hm3  Disease Model	Tpp1^tm1Plob/Tpp1^tm1Plob	involves: 129S1/Sv * C57BL/6
ht4  Disease Model	Tpp1^tm1Plob/Tpp1^tm1.1Plob	B6.129S1-Tpp1^tm1Plob/Tpp1^tm1.1Plob

Phenotypes:

Affected Systems	hm1	hm2	hm3	ht4
show or hide all annotated terms
behavior/neurological	√		√	√
tremors	√		√	√
ataxia	√		√	√
impaired coordination			√
abnormal gait	√		√	√
short stride length	√			√
decreased vertical activity			√
audiogenic seizures			√
cellular	√		√	√
abnormal lysosome morphology	√
abnormal lysosome physiology	√		√	√
mortality/aging	√	√	√	√
premature death	√	√	√	√
nervous system	√		√	√
audiogenic seizures			√
abnormal brain morphology	√
abnormal Purkinje cell morphology	√			√
Purkinje cell degeneration			√
neurodegeneration			√
demyelination			√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1	hm3	ht4
neuronal ceroid lipofuscinosis 2 IDs neuronal ceroid lipofuscinosis 2       DOID:0110726 ICD10CM:E75.4 OMIM:204500 ORDO:228349 Close	√	√	√

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Tpp1 Mutation: 49 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: 16 reference(s)