Smpd1^em2Mvw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Smpd1^em2Mvw
• Name: sphingomyelin phosphodiesterase 1, acid lysosomal; endonuclease-mediated mutation 2, Michael Wiles
• MGI ID: MGI:8260697
• Gene: Smpd1 Location: Chr7:105203567-105207596 bp, + strand Genetic Position: Chr7, 55.9 cM
• Alliance: Smpd1^em2Mvw page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Modified isoform(s))
• Mutation: Nucleotide substitutions
• Mutation details: This CRISPR/cas9-mediated 2 nucleotide substitution, AGC to GCC, results in a single codon change S505A, corresponding to the human Ser507. (J:374351)
• Inheritance: Not Specified

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:374351 Beard CA, et al., Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease. Neurobiol Dis. 2025 Nov;216:107147
• All: 1 reference(s)