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Allele : Ppt1<tm1.1Dprc> palmitoyl-protein thioesterase 1; targeted mutation 1.1, David Pearce

Primary Identifier  MGI:5585301 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Ppt1
Transmission  Germline Strain of Origin  129S6/SvEvTac x C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  A targeting construct was designed to insert a C to T point mutation in exon 5 of the gene, resulting in a non-sense mutation, R151X, commonly found in humans with neuronal ceroid lipofuscinoses (NCLs). A loxP- and frt-flanked neomycin (neo) resistance cassette was inserted downstream of exon 5. Cre-mediated recombination removed the floxed neomycin cassette.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Cln1<R151X>,
  • Cln1<R151X>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories