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Allele : Sppl3<em1Pomz> signal peptide peptidase 3; endonuclease-mediated mutation 1, Joel L Pomerantz

Primary Identifier  MGI:6467468 Allele Type  Endonuclease-mediated
Attribute String  Modified isoform(s) Gene  Sppl3
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 genome engineering was used to generate mice with a knockin mutation that alters codon 271 from one encoding aspartic acid to one encoding alanine. This residue is part of the YD and GXGD active site motif that is highly conserved among intramembrane aspartyl proteases and whose mutation to alanine has been shown to abrogate protease activity. This allele is described as "protease-dead".
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Sppl3<D271A>,
  • Sppl3<D271A>
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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