Sumf1^em8Lutzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sumf1^em8Lutzy
• Name: sulfatase modifying factor 1; endonuclease-mediated mutation 8, Cathy Lutz
• MGI ID: MGI:6754176
• Synonyms: Sumf1^S153P
• Gene: Sumf1 Location: Chr6:108083989-108162543 bp, - strand Genetic Position: Chr6, 49.71 cM
• Alliance: Sumf1^em8Lutzy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 genome editing is used to introduce a S153P (TCT to CCT) missense mutation, and silent mutations, including F154F (TTC to TTT) and F156F (TTT to TTC), into exon 3. The two silent changes were introduced to prevent recutting of the targeted region. The mutation is orthologous to S155P in humans and is associated with multiple sulfatase deficiency (MSD). (J:334328)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Sumf1 Mutation: 32 strains or lines available

References

• Original: J:334328 Sorrentino NC, et al., New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency. J Inherit Metab Dis. 2023 Mar;46(2):335-347
• All: 1 reference(s)