Phenotypes associated with this allele

• Allele Symbol: Slc40a1^Pcm
• Allele Name: polycythaemia
• Allele ID: MGI:1889622
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc40a1^Pcm/Slc40a1^Pcm	A.Cg-Slc40a1^Pcm	MGI:4850036
ht2	Slc40a1^Pcm/Slc40a1^+	A.Cg-Slc40a1^Pcm	MGI:4850037
ht3	Slc40a1^Pcm/Slc40a1^+	involves: 101/H * C3H/HeH	MGI:4850025

Genotype
MGI:4850036

hm1

• Allelic Composition: Slc40a1^Pcm/Slc40a1^Pcm
• Genetic Background: A.Cg-Slc40a1^Pcm

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

hematopoietic system

increased splenocyte apoptosis ( J:98335 )

• E15.5 and E16.5 fetuses exhibited a significant increase in TUNEL-positive foci relative to wild-type

hypochromic microcytic anemia ( J:89185 )

• observed at birth but mice correct for the significant perinatal anemia by 7 weeks of age

• by 12 weeks of age hematocrit measurements are not different from wild-type or heterozygous mice

abnormal spleen development ( J:98335 )

• a model for disrupted splenogenesis

decreased spleen iron level ( J:98335 )

• spleens of E15.5 fetuses show a graded decrease in iron levels

small spleen ( J:98335 )

• as early as E16.5, and very evident at E17.5, the spleen is significantly smaller compared with spleens from wild-type and heterozygous mice

• observations of 7 week old mice indicate that the decrease in spleen size is maintained

immune system

increased splenocyte apoptosis ( J:98335 )

• E15.5 and E16.5 fetuses exhibited a significant increase in TUNEL-positive foci relative to wild-type

abnormal spleen development ( J:98335 )

• a model for disrupted splenogenesis

decreased spleen iron level ( J:98335 )

• spleens of E15.5 fetuses show a graded decrease in iron levels

small spleen ( J:98335 )

• as early as E16.5, and very evident at E17.5, the spleen is significantly smaller compared with spleens from wild-type and heterozygous mice

• observations of 7 week old mice indicate that the decrease in spleen size is maintained

homeostasis/metabolism

decreased spleen iron level ( J:98335 )

• spleens of E15.5 fetuses show a graded decrease in iron levels

decreased circulating iron level ( J:89185 )

• between 7 and 15 weeks of age

decreased liver iron level ( J:98335 )

• a severe reduction of hepatic iron content is seen in E15.5 fetuses

increased liver iron level ( J:89185 )

• significantly elevated in liver of mice 12 weeks old

liver/biliary system

decreased liver iron level ( J:98335 )

• a severe reduction of hepatic iron content is seen in E15.5 fetuses

increased liver iron level ( J:89185 )

• significantly elevated in liver of mice 12 weeks old

integument

pallor ( J:98335 )

• E15.5 until birth mutant mice exhibit marked pallor

cellular

increased splenocyte apoptosis ( J:98335 )

• E15.5 and E16.5 fetuses exhibited a significant increase in TUNEL-positive foci relative to wild-type

Genotype
MGI:4850037

ht2

• Allelic Composition: Slc40a1^Pcm/Slc40a1⁺
• Genetic Background: A.Cg-Slc40a1^Pcm

hematopoietic system

increased splenocyte apoptosis ( J:98335 )

• E15.5 and E16.5 fetuses exhibited a moderate increase in TUNEL-positive foci relative to wild-type, demonstrating minimal baseline cell death

polycythemia ( J:89185 )

• by 7 weeks of age 75% of mice display redness in ear and footpad vasculature indicative of this condition

• this condition is transient, seen at 7 weeks of age, and erythropoietin dependent

• hematocrit measurements corrected to baseline by 12 weeks of age

abnormal spleen development ( J:98335 )

• a model for disrupted splenogenesis

decreased spleen iron level ( J:98335 )

• a graded decrease in spleen iron level is seen at E15.5

small spleen ( J:98335 )

• reduced in size relative to wild-type

• as early as E16.5, and very evident at E17.5, the spleen is significantly smaller compared with spleens from wild-type mice

immune system

abnormal spleen development ( J:98335 )

• a model for disrupted splenogenesis

decreased spleen iron level ( J:98335 )

• a graded decrease in spleen iron level is seen at E15.5

small spleen ( J:98335 )

• reduced in size relative to wild-type

• as early as E16.5, and very evident at E17.5, the spleen is significantly smaller compared with spleens from wild-type mice

abnormal spleen physiology ( J:98335 )

• at 3 and 7 weeks of age there is a significantly reduced response to phenylhydrazine treatment indicating a decreased functional capacity to initiate erythroid progenitor and precursor cell proliferation

increased splenocyte apoptosis ( J:98335 )

• E15.5 and E16.5 fetuses exhibited a moderate increase in TUNEL-positive foci relative to wild-type, demonstrating minimal baseline cell death

homeostasis/metabolism

decreased spleen iron level ( J:98335 )

• a graded decrease in spleen iron level is seen at E15.5

decreased liver iron level ( J:98335 )

• by E15.5 a significant reduction in hepatic iron content is seen

liver/biliary system

decreased liver iron level ( J:98335 )

• by E15.5 a significant reduction in hepatic iron content is seen

cellular

increased splenocyte apoptosis ( J:98335 )

• E15.5 and E16.5 fetuses exhibited a moderate increase in TUNEL-positive foci relative to wild-type, demonstrating minimal baseline cell death

Genotype
MGI:4850025

ht3

• Allelic Composition: Slc40a1^Pcm/Slc40a1⁺
• Genetic Background: involves: 101/H * C3H/HeH

hematopoietic system

polycythemia ( J:30568 )

• Background Sensitivity: indicated by notably red ears and feet but variable in occurrence depending on the genetic cross