Phenotypes Associated with This Genotype

Genotype
MGI:6324956

• Allelic Composition: Fech^m1Pas/Fech^{tm1.1(FECH*)Emi}
• Genetic Background: involves: 129 * BALB/cJ * C57BL/6J

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:239515 )

• fewer than the expected numbers of mice are obtained indicating prenatal mortality

growth/size/body

decreased body size ( J:239515 )

• reduced body size and mass which is already seen shortly after birth becomes more pronounced with age

postnatal growth retardation ( J:239515 )

enlarged liver ( J:239515 )

• increase in liver mass is more pronounced than in homozygous Fech^tm1Pas mice

enlarged spleen ( J:239515 )

• increase in spleen mass is more pronounced than in homozygous Fech^tm1Pas mice

hematopoietic system

enlarged spleen ( J:239515 )

• increase in spleen mass is more pronounced than in homozygous Fech^tm1Pas mice

hypochromic microcytic anemia ( J:239515 )

decreased eosinophil cell number ( J:239515 )

decreased erythrocyte cell number ( J:239515 )

• red blood cell counts are reduced

decreased hematocrit ( J:239515 )

decreased mean corpuscular hemoglobin ( J:239515 )

decreased mean corpuscular hemoglobin concentration ( J:239515 )

decreased mean corpuscular volume ( J:239515 )

thrombocytosis ( J:239515 )

reticulocytosis ( J:239515 )

homeostasis/metabolism

increased circulating bilirubin level ( J:239515 )

• most mice show elevated serum bilirubin levels that tend to increase with age

• however, serum iron concentrations are normal

increased porphyrin level ( J:239515 )

• very high levels of serum protoporphyrin IX

• however, serum levels of the liver enzymes alanine aminotransferase and aspartate aminotransferase are not different

immune system

enlarged spleen ( J:239515 )

• increase in spleen mass is more pronounced than in homozygous Fech^tm1Pas mice

decreased eosinophil cell number ( J:239515 )

integument

skin photosensitivity ( J:239515 )

• mice exhibit skin photosensitivity, with all tested light doses eliciting acute symptoms on the exposed skin of erythema, orange exudate, and mice showing behavioral changes indicative of pain (hunched posture, reduced movement, occasional shivering, closed eyes and drawn back ears)

• pain symptoms disappear by 24 hours but the morphological changes persist for several days

liver/biliary system

abnormal liver morphology ( J:239515 )

• liver tissue appears more rigid upon palpation compared with the usual soft texture

• hepatobiliary pathology in livers, with an increase in small cells, presumably macrophages, in the liver

• many brown pigment granules are present in biliary canaliculi and portal macrophages, probably representing protoporphyrin IX deposits

enlarged liver ( J:239515 )

• increase in liver mass is more pronounced than in homozygous Fech^tm1Pas mice

abnormal bile canaliculus morphology ( J:239515 )

• many brown pigment granules are present in biliary canaliculi

jaundice ( J:239515 )

• yellowish tint of the dermis, muscles and internal organs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
erythropoietic protoporphyria		DOID:13270	OMIM:177000 OMIM:300752	J:239515