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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
CpoxRbc16
red blood cell mutant 16
MGI:6117774
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
CpoxRbc16/CpoxRbc16 involves: C57BL/6 MGI:6160811
ht2
CpoxRbc16/Cpox+ involves: C57BL/6 MGI:6160805


Genotype
MGI:6160811
hm1
Allelic
Composition
CpoxRbc16/CpoxRbc16
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
CpoxRbc16 mutation (1 available); any Cpox mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

embryo
• underdeveloped pharyngeal arch structures
• E9.5 embryos exhibit severe developmental delays
• however, a vascularized yolk sac is seen indicating blood cell formation
• embryos lack prominent forelimb bud
• open rostral neural tube at E9.5

growth/size/body
• E9.5 embryos exhibit severe developmental delays
• however, a vascularized yolk sac is seen indicating blood cell formation

limbs/digits/tail
• embryos lack prominent forelimb bud

nervous system
• open rostral neural tube at E9.5

craniofacial
• underdeveloped pharyngeal arch structures




Genotype
MGI:6160805
ht2
Allelic
Composition
CpoxRbc16/Cpox+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
CpoxRbc16 mutation (1 available); any Cpox mutation (33 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

growth/size/body

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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory