Phenotypes associated with this allele

• Allele Symbol: Cpox^Rbc16
• Allele Name: red blood cell mutant 16
• Allele ID: MGI:6117774
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cpox^Rbc16/Cpox^Rbc16	involves: C57BL/6	MGI:6160811
ht2	Cpox^Rbc16/Cpox^+	involves: C57BL/6	MGI:6160805

Genotype
MGI:6160811

hm1

• Allelic Composition: Cpox^Rbc16/Cpox^Rbc16
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:244493 )

• embryos do not survive beyond E9.5

embryo

abnormal pharyngeal arch morphology ( J:244493 )

• underdeveloped pharyngeal arch structures

embryonic growth retardation ( J:244493 )

• E9.5 embryos exhibit severe developmental delays

• however, a vascularized yolk sac is seen indicating blood cell formation

absent forelimb buds ( J:244493 )

• embryos lack prominent forelimb bud

open neural tube ( J:244493 )

• open rostral neural tube at E9.5

growth/size/body

embryonic growth retardation ( J:244493 )

• E9.5 embryos exhibit severe developmental delays

• however, a vascularized yolk sac is seen indicating blood cell formation

limbs/digits/tail

absent forelimb buds ( J:244493 )

• embryos lack prominent forelimb bud

nervous system

open neural tube ( J:244493 )

• open rostral neural tube at E9.5

craniofacial

abnormal pharyngeal arch morphology ( J:244493 )

• underdeveloped pharyngeal arch structures

Genotype
MGI:6160805

ht2

• Allelic Composition: Cpox^Rbc16/Cpox⁺
• Genetic Background: involves: C57BL/6

hematopoietic system

enlarged spleen ( J:244493 )

microcytic anemia ( J:244493 )

hypochromic microcytic anemia ( J:244493 )

• microcytic hypochromic red cells and abundant target cells

increased erythroblast number ( J:244493 )

• increase in early erythroblast expansion in the spleen

• however, reticulocyte counts and red cell half-life are normal and white cell counts are normal

abnormal erythrocyte morphology ( J:244493 )

• whole blood heme in red cells is reduced

decreased mean corpuscular volume ( J:244493 )

increased red blood cell distribution width ( J:244493 )

increased spleen red pulp amount ( J:244493 )

homeostasis/metabolism

increased circulating ferritin level ( J:244493 )

porphyria ( J:244493 )

♀ • 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

enlarged spleen ( J:244493 )

increased spleen red pulp amount ( J:244493 )

growth/size/body

enlarged spleen ( J:244493 )

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