Sppl3^em1Pomz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sppl3^em1Pomz
• Name: signal peptide peptidase 3; endonuclease-mediated mutation 1, Joel L Pomerantz
• MGI ID: MGI:6467468
• Synonyms: Sppl3^D271A
• Gene: Sppl3 Location: Chr5:115149204-115236849 bp, + strand Genetic Position: Chr5, 55.99 cM, cytoband F
• Alliance: Sppl3^em1Pomz page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Nucleotide substitutions
• Mutation details: 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". (J:280182)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Sppl3 Mutation: 75 strains or lines available

References

• Original: J:280182 Hamblet CE, et al., NK Cell Maturation and Cytotoxicity Are Controlled by the Intramembrane Aspartyl Protease SPPL3. J Immunol. 2016 Mar 15;196(6):2614-26
• All: 1 reference(s)