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Targeted Allele Detail
Symbol: Urostm4Rjde
Name: uroporphyrinogen III synthase; targeted mutation 4, Robert J Desnick
MGI ID: MGI:3776890
Synonyms: UrosV99L
Gene: Uros  Location: Chr7:133686243-133710072 bp, - strand  Genetic Position: Chr7, 77.26 cM
Germline Transmission:  Earliest citation of germline transmission: J:132542
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Hypomorph, Inserted expressed sequence)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA floxed neo cassette located between exons 4 and 5 and a modified exon 5 containing a nucleotide substitution that results in an amino acid substitution of leucine for valine at position 99 (V99L) was knocked into the locus. (J:132542)
View phenotypes for all genotypes (concatenated display).
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:  11 strains or lines available
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.04
The Jackson Laboratory