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Allele : Idua<tm1.1Kmke> iduronidase, alpha-L; targeted mutation 1, Kim M Keeling

Primary Identifier  MGI:4415188 Allele Type  Targeted
Gene  Idua Transmission  Germline
Strain of Origin  129/Sv Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Idua-W392X,
  • Idua-W392X
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

10 Publication categories

Trail: Allele