Idua^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Idua^m1Btlr
• Name: iduronidase, alpha-L; mutation 1, Bruce Beutler
• MGI ID: MGI:6760604
• Synonyms: Idua^D202E
• Gene: Idua Location: Chr5:108808197-108832423 bp, + strand Genetic Position: Chr5, 53.24 cM
• Alliance: Idua^m1Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T-to-G point mutation that results in the amino acid substitution of aspartic acid with glutamic acid at position 202 (p.D202E). (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: 40 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)