Uros^tm3Rjde
Targeted Allele Detail

Summary

• Symbol: Uros^tm3Rjde
• Name: uroporphyrinogen III synthase; targeted mutation 3, Robert J Desnick
• MGI ID: MGI:3776889
• Synonyms: Uros^V99AT
• Gene: Uros Location: Chr7:133287972-133311801 bp, - strand Genetic Position: Chr7, 77.26 cM
• Alliance: Uros^tm3Rjde page

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 details: A 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 alanine for valine at position 99 (V99A) was knocked into the locus generating 3 concatamers of the insertion cassette. (J:132542)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 18 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)