Phenotypes Associated with This Genotype

Genotype
MGI:2175882

• Allelic Composition: Fech^m1Pas/Fech^m1Pas
• Genetic Background: involves: 129/Sv * BALB/c

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

homeostasis/metabolism

increased circulating bilirubin level ( J:2021 )

• mice are recognizable by the intense yellow color of their sera and gross bilirubinemia

• conjugated and total bilirubin levels in the blood are about 40-fold higher than in controls

abnormal circulating enzyme level ( J:2021 )

• transaminase activity in the serum is increased

increased circulating alkaline phosphatase level ( J:2021 )

• alkaline phosphatase activity in the serum is elevated almost 10-fold

increased porphyrin level ( J:2021 )

• porphyrin levels in erythrocytes, plasma, liver, and feces are extremely elevated

increased erythrocyte protoporphyrin level ( J:2021 )

hematopoietic system

increased spleen weight ( J:2021 )

• spleen-to-body weight ratio is significantly increased compared to controls by 15 days of age

hypochromic anemia ( J:2021 )

• mice 3 to 5 months of age have a normocytic, slightly hypochromatic anemia with a reduction in the number of red blood cells and in total hemoglobulin content

abnormal erythrocyte morphology ( J:2021 )

• polychromatophilia, anisocytosis, target cells and leptocytes are noted in blood smears from these mice

abnormal erythropoiesis ( J:2021 )

• ferrochelastase activity, important in the synthesis of hemoglobulin, is less the 7% of normal in the spleen, liver, and kidney

decreased erythrocyte cell number ( J:2021 )

• red blood cell count is reduced by almost a third compared to controls

decreased hematocrit ( J:2021 )

• hematocrit is reduced by around 25% compared to controls

decreased hemoglobin content ( J:2021 )

• hemoglobulin content is decreased by almost a third compared to controls

increased red blood cell distribution width ( J:2021 )

• the red cell volume distribution width is 34.9 compared to 21.6 in controls

anisocytosis ( J:2021 )

• is noted in blood smears

increased erythrocyte protoporphyrin level ( J:2021 )

leptocytosis ( J:2021 )

• target cells and leptocytes are noted in blood smears

polychromatophilia ( J:2021 )

• is noted in blood smears

reticulocytosis ( J:2021 )

• the percentage of reticulocytes found in the blood is four-fold higher than in controls

decreased erythrocyte osmotic fragility ( J:2021 )

• osmotic fragility of erthrocytes is slightly decreased with half the cells lysing at 0.46% saline compared to 0.53% for controls

liver/biliary system

increased liver weight ( J:2021 )

• liver-to-body weight ratio is significantly higher compared to controls by 15 days of age

jaundice ( J:2021 )

• jaundice is usually apparent and is most severe in pups and young adults

growth/size/body

distended abdomen ( J:2021 )

• enlarged liver and spleens leads to a distended abdomen by several months of age

increased liver weight ( J:2021 )

• liver-to-body weight ratio is significantly higher compared to controls by 15 days of age

increased spleen weight ( J:2021 )

• spleen-to-body weight ratio is significantly increased compared to controls by 15 days of age

reproductive system

reduced fertility ( J:2021 )

• mice have reduced fertility likely due to the poor health of the mice

behavior/neurological

decreased locomotor activity ( J:2021 )

• mice exhibit hypoactivity by several months of age

adipose tissue

decreased total body fat amount ( J:2021 )

• mice have decreased fatty tissue by several months of age

immune system

increased spleen weight ( J:2021 )

• spleen-to-body weight ratio is significantly increased compared to controls by 15 days of age

integument

skin photosensitivity ( J:2021 )

• inflammatory lesions appear on ear and backs from fluorescent lighting used in standard housing conditions

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
erythropoietic protoporphyria		DOID:13270	OMIM:177000 OMIM:300752	J:2021