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| Nomenclature |
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Symbol:
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Urostm2Rjde
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Name:
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uroporphyrinogen III synthase;
targeted mutation 2, Robert J Desnick
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MGI ID: |
MGI:3776884 |
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Synonyms: |
UrosC73R |
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Gene:
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Uros
Location:
Chr7:133686243-133710072 bp, - strand
Genetic Position: Chr7,
77.26 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:132542
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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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: A floxed neo cassette located between exons 4 and 5 and a modified exon 4 containing a nucleotide substitution that results in an amino acid substitution of arginine for cysteine at position 73 (C73R) was knocked into the locus. (J:132542)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Uros Mutation:
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9 strains or lines available |
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| References |
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Original: |
J:132542
Bishop DF et al.,
"Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions."
Am J Hum Genet 2006 Apr;78(4):645-58
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All: |
1 reference(s)
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Analysis Tools
