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Allele : Ppil1<em4Jgg> peptidylprolyl isomerase (cyclophilin)-like 1; endonuclease-mediated mutation 4, Joseph Gleeson

Primary Identifier  MGI:6509462 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Ppil1
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  Using a crRNA (targeting TCCCTATACCCTGGCACACT), a tracrRNA and an ssODN template (GGTCCTGGGAGTTTGTTTCCACCATGCCCACTCGATTCACCATCCCTATACCCTGGCACACTTGTCCAAAAATAGTATGCTTGCCGTCCAGCCATTGCGTGGGGGCCAGGGTCACAAAGAAC) with CRISPR/Cas9 technology, a single G-to-A mutation (C-to-T on forward strand) was engineered to change arginine codon 131 (CGA) to a glutamine codon (CAA) (p.R131Q). This mutation mimics a human mutation found in pontocerebellar hypoplasia plus microcephaly (PCHM) patients.
  • mutations:
  • Single point mutation
  • synonyms:
  • Ppil1<R131Q>,
  • Ppil1<R131Q>
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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

3 Publication categories