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| Nomenclature |
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Symbol:
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Iduatm1Clk
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Name:
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iduronidase, alpha-L-;
targeted mutation 1, Lorne A Clarke
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MGI ID: |
MGI:2176236 |
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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:39522
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: A neomycin selection cassette was inserted into exon 6. RT-PCR analysis on RNA derived from liver and kidney of homozygous mice demonstrated that no detectable transcript was produced from this allele. Enzymatic activity assays on homogenates of liver, kidney, brain and tail clippings of homozygous mice confirmed that no functional protein was expressed from this allele. (J:39522)
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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:39522
Clarke LA et al.,
"Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene."
Hum Mol Genet 1997 Apr;6(4):503-11
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All: |
11 reference(s)
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Analysis Tools
