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Phenotypes Associated with This Genotype
Genotype
MGI:6160805
Allelic
Composition
CpoxRbc16/Cpox+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
CpoxRbc16 mutation (0 available); any Cpox mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• microcytic hypochromic red cells and abundant target cells
• increase in early erythroblast expansion in the spleen
• however, reticulocyte counts and red cell half-life are normal and white cell counts are normal
• whole blood heme in red cells is reduced

homeostasis/metabolism
• 3- to 4-fold increase in porphyrins, particularly coproporphyrinogen III, in the urine and feces in females, but not males
• the ratio of the two coproporphyrinogen isomers (CIII:CI) is elevated in the feces of females
• however, urinary porphobilinogen level is normal
• females treated with phenobarbital to induce porphyric stress exhibit elevated fecal coproporphyrinogen III levels and elevation in the CIII:CI ratio, however, urinary prophyrins are not significantly increased above baseline levels
• females fasted for 15 hours do not exhibit clinical crisis and mice remain well and urinary prophyrins do not increase

immune system

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hereditary coproporphyria DOID:13269 OMIM:121300
J:244493


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/31/2018
MGI 6.12
The Jackson Laboratory