Cpox^Rbc16
Chemically induced Allele Detail

Summary

• Symbol: Cpox^Rbc16
• Name: coproporphyrinogen oxidase; red blood cell mutant 16
• MGI ID: MGI:6117774
• Synonyms: Cpox^W373X, RBC16
• Gene: Cpox Location: Chr16:58490571-58500754 bp, + strand
• Alliance: Cpox^Rbc16 page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: ENU-mutagenesis induced a G to A substitution at position c.1118 in exon 5 predicted to produce a premature stop codon in place of a tryptophan at amino acid 373 (W373X). Quantitative real-time PCR shows a 50% reduction in mRNA expression and Western blot analysis of liver lysates confirmed a similar loss of protein in heterozygotes. (J:244493)
• Inheritance: Dominant

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Cpox Mutation: 33 strains or lines available

References

• Original: J:244493 Conway AJ, et al., A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen. Dis Model Mech. 2017 Aug 01;10(8):1005-1013
• All: 1 reference(s)