Ppox^tm1Had
Targeted Allele Detail

Summary

• Symbol: Ppox^tm1Had
• Name: protoporphyrinogen oxidase; targeted mutation 1, Harry A Dailey
• MGI ID: MGI:5696597
• Synonyms: R59W/Neo
• Gene: Ppox Location: Chr1:171104564-171108955 bp, - strand Genetic Position: Chr1, 79.3 cM, cytoband H2
• Alliance: Ppox^tm1Had page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:226160
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutation: Nucleotide substitutions
• Mutation details: A single codon was mutagenized to replace the arginine at amino acid 59 with tryptophan, mimicking the predominant variegate porphyria mutation in the South African human population, and a loxP flanked neomycin selection cassette was inserted into intron 2. (J:226160)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Ppox Mutation: 31 strains or lines available

References

• Original: J:226160 Medlock AE, et al., A mouse model for South African (R59W) variegate porphyria: construction and initial characterization. Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):71-8
• All: 1 reference(s)