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Iduatm1.1Kmke
Targeted Allele Detail
Nomenclature
Symbol: Iduatm1.1Kmke
Name: iduronidase, alpha-L; targeted mutation 1, Kim M Keeling
MGI ID: MGI:4415188
Synonyms: Idua-W392X
Gene: Idua  Location: Chr5:108660331-108684552 bp, + strand  Genetic Position: Chr5, 53.24 cM
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 detailsNucleotide 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
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:  15 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory