Smpd1^em1Edam
Endonuclease-mediated Allele Detail

Summary

• Symbol: Smpd1^em1Edam
• Name: sphingomyelin phosphodiesterase 1, acid lysosomal; endonuclease-mediated mutation 1, Edward A Miao
• MGI ID: MGI:7481324
• Synonyms: Smpd1^D249A, Smpd1^DA
• Gene: Smpd1 Location: Chr7:105203567-105207596 bp, + strand Genetic Position: Chr7, 55.9 cM
• Alliance: Smpd1^em1Edam page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: 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. (J:326897)

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 Smpd1 Mutation: 26 strains or lines available

References

• Original: J:326897 Nozaki K, et al., Caspase-7 activates ASM to repair gasdermin and perforin pores. Nature. 2022 Jun;606(7916):960-967
• All: 1 reference(s)