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Allele : Ppil1<em3Jgg> peptidylprolyl isomerase (cyclophilin)-like 1; endonuclease-mediated mutation 3, Joseph Gleeson

Primary Identifier  MGI:6509459 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence, Hypomorph Gene  Ppil1
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  Using a gRNA (targeting GTCTGGTCCTGCGTTGGCCA) and an ssODN template (TGCCCTTCATGCTCTTCTCTCTCCTTATGTCCCCAGGGGCTGGGATTCTCACGATGGCCAACGCAGGACCAGACACCAATGGCAGCCAGTTCTTTGTGACC) with CRISPR/Cas9 technology, two point mutations were engineered to change alanine codon 99 (GCC) to a threonine codon (ACG) (p.A99T). This mutation mimics a human mutation found in pontocerebellar hypoplasia plus microcephaly (PCHM) patients.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Ppil1<A99T>,
  • Ppil1<A99T>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

3 Publication categories