Uros^tm1Cged
Targeted Allele Detail

Summary

• Symbol: Uros^tm1Cged
• Name: uroporphyrinogen III synthase; targeted mutation 1, Cecile Ged
• MGI ID: MGI:3619379
• Synonyms: Uros^P248Q
• Gene: Uros Location: Chr7:133287972-133311801 bp, - strand Genetic Position: Chr7, 77.26 cM
• Alliance: Uros^tm1Cged page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:105776
• Parent Cell Line: H1 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A targeting vector was used to insert a neo into intron 9 and a P248Q missense mutation encoded by a CCA to CAA substitution in exon 10. This mutation recreates one found in congenital erythropoietic porphyria (CEP) patients. (J:105776)

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Uros Mutation: 18 strains or lines available

References

• Original: J:105776 Ged C, et al., A knock-in mouse model of congenital erythropoietic porphyria. Genomics. 2006 Jan;87(1):84-92
• All: 5 reference(s)