Idua^em1Btlr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Idua^em1Btlr
• Name: iduronidase, alpha-L; endonuclease-mediated mutation 1, Bruce Beutler
• MGI ID: MGI:6760607
• Synonyms: Idua^indel
• Gene: Idua Location: Chr5:108808197-108832423 bp, + strand Genetic Position: Chr5, 53.24 cM
• Alliance: Idua^em1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: CRISPR-targeting produced an insertion/duplication mutation (chr5:108828187dupT (GRCm39)) resulting in a frameshift and premature stop codon (p.Ser205Phefs*2). (J:309727)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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 Idua Mutation: 41 strains or lines available

References

• Original: J:309727 Rios JJ, et al., Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice. J Bone Miner Res. 2021 Aug;36(8):1548-1565
• All: 1 reference(s)