Idua^tm1.1Kmke
Targeted Allele Detail

Summary

• Symbol: Idua^tm1.1Kmke
• Name: iduronidase, alpha-L; targeted mutation 1, Kim M Keeling
• MGI ID: MGI:4415188
• Synonyms: Idua-W392X
• Gene: Idua Location: Chr5:108808197-108832423 bp, + strand Genetic Position: Chr5, 53.24 cM
• Alliance: Idua^tm1.1Kmke page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:155619
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Nucleotide substitutions (TGG to TAG) were introduced into exon 9 that result in the amino acid substitution of tryptophan with a stop at position 392 (W392X). A floxed neo cassette inserted between exons 8 and 9 was removed by cre mediated recombination leaving a single loxP site. The mutation mimicks one identified in patients with mucopolysaccharidosis type I-Hurler (MPS I-H), also known as Hurler syndrome. RT-PCR confirmed a 30% to 50% reduction in steady-state transcript levels. (J:155619)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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:155619 Wang D, et al., Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation. Mol Genet Metab. 2010 Jan;99(1):62-71
• All: 6 reference(s)