Idua^em1Osp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Idua^em1Osp
• Name: iduronidase, alpha-L; endonuclease-mediated mutation 1, Natalia Gomez-Ospina
• MGI ID: MGI:6501945
• Synonyms: IDUA^X
• Gene: Idua Location: Chr5:108808197-108832423 bp, + strand Genetic Position: Chr5, 53.24 cM
• Alliance: Idua^em1Osp page

Mutation origin

• Strain of Origin: NOD.Cg-Prkdc^scid Il2rg^tm1Wjl/SzJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: CRISPR/cas9 genome editing is used to replace the tryptophan at position 392 with a nonsense codon, W392X (initially published as W329X), in exon 9 . W392X is analogous to the human W402X mutation associated with severe mucopolysaccharidosis type I (MPSI). (J:300121)

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 Idua Mutation: 40 strains or lines available

References

• Original: J:300121 Gomez-Ospina N, et al., Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I. Nat Commun. 2019 Sep 6;10(1):4045
• All: 1 reference(s)