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Allele : Tpp1<tm1.1Dprc> tripeptidyl peptidase I; targeted mutation 1.1, David Pearce

Primary Identifier  MGI:5901874 Allele Type  Targeted
Attribute String  Humanized sequence, Hypomorph Gene  Tpp1
Transmission  Germline Strain of Origin  129 x C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  The targeting vector is designed to insert an FRT-flanked neomycin (neo) resistance cassette downstream of exon 6 of the gene. A C to T transition was introduced in exon 6, corresponding to human amino acid 208, resulting in a nonsense mutation, R207X, commonly found in patients with late infantile Neuronal Ceroid Lipofuscinoses (NCL) or Batten disease. Flp-mediated recombination removed the FRT-flanked neo cassette.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • CLN2<R207X>,
  • CLN2<R207X>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele