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Allele : Smpd1<em1Edam> sphingomyelin phosphodiesterase 1, acid lysosomal; endonuclease-mediated mutation 1, Edward A Miao
Primary Identifier  MGI:7481324 Allele Type  Endonuclease-mediated
Attribute String  Not Specified Gene  Smpd1
Is Recombinase  false Is Wild Type  false
molecularNote  Aspartic acid codon 249 (GAC) was changed to alanine (GCT) (p.D249A) using an sgRNA and ssODN template with CRISPR/Cas9 technology. The mutation eliminates the caspase 7 cleavage site in the encoded peptide.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Smpd1<DA>,
  • Smpd1<DA>,
  • Smpd1<D249A>,
  • Smpd1<D249A>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele




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