Ids^em1Ryma
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ids^em1Ryma
• Name: iduronate 2-sulfatase; endonuclease-mediated mutation 1, Ryuichi Mashima
• MGI ID: MGI:7565616
• Synonyms: Ids-P88L
• Gene: Ids Location: ChrX:69386675-69408690 bp, - strand Genetic Position: ChrX, 36.01 cM
• Alliance: Ids^em1Ryma page

Mutation origin

• Strain of Origin: (C57BL/6 x DBA/2)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Proline codon 88 (CCA) in exon 3 was changed to leucine (CTA) (c.C263T, p.P88L) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.P86L (c.C257T) mutation associated with mucopolysaccharidosis type II (MPS II). (J:343337)

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 Ids Mutation: 12 strains or lines available

References

• Original: J:343337 Mashima R, et al., A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation. Sci Rep. 2023 May 15;13(1):7865
• All: 1 reference(s)