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Urostm2Rjde
Targeted Allele Detail
Nomenclature
Symbol: Urostm2Rjde
Name: uroporphyrinogen III synthase; targeted mutation 2, Robert J Desnick
MGI ID: MGI:3776884
Synonyms: UrosC73R
Gene: Uros  Location: Chr7:133686243-133710072 bp, - strand  Genetic Position: Chr7, 77.26 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:132542
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA 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)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Uros Mutation:  10 strains or lines available
References
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
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory