Phenotypes associated with this allele

• Allele Symbol: Epor^tm1.4Jtp
• Allele Name: targeted mutation 1.4, Josef T Prchal
• Allele ID: MGI:2386099
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Epor^tm1.4Jtp/Epor^tm1.4Jtp	involves: 129P2/OlaHsd * C57BL/6	MGI:2386210
ht2	Epor^tm1.4Jtp/Epor^+	involves: 129P2/OlaHsd * C57BL/6	MGI:2386211

Genotype
MGI:2386210

hm1

• Allelic Composition: Epor^tm1.4Jtp/Epor^tm1.4Jtp
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

hematopoietic system

abnormal proerythroblast morphology ( J:67205 )

• increase in both early and late erythroid progenitors

polycythemia ( J:67205 )

• develop polycythemia within 3-6 weeks after birth

increased hematocrit ( J:67205 )

• elevated on average by 58%

anisocytosis ( J:67205 )

• erythrocytes exhibit significant anisocytosis, especially expnaded red cell mass

microcytosis ( J:67205 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial erythrocytosis 1		DOID:0060652	OMIM:133100	J:67205

Genotype
MGI:2386211

ht2

• Allelic Composition: Epor^tm1.4Jtp/Epor⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

hematopoietic system

polycythemia ( J:67205 )

• develop polycythemia within 3-6 weeks after birth, however do not exhibit any red blood cell morphological abnormalities

increased hematocrit ( J:67205 )

increased hemoglobin content ( J:67205 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial erythrocytosis 1		DOID:0060652	OMIM:133100	J:67205