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| Nomenclature |
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Symbol:
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Iduatm1.1Kmke
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Name:
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iduronidase, alpha-L-;
targeted mutation 1, Kim M Keeling
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MGI ID: |
MGI:4415188 |
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Synonyms: |
Idua-W392X |
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Gene:
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Idua
Location:
Chr5:108660331-108684552 bp, + strand
Genetic Position: Chr5,
53.24 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:155619
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129/Sv
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
