Phenotypes associated with this allele

• Allele Symbol: Slc40a1^ffe
• Allele Name: flatiron
• Allele ID: MGI:3662903
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc40a1^ffe/Slc40a1^ffe	involves: 129X1/SvJ * C57BL/6J	MGI:3700663
hm2	Slc40a1^ffe/Slc40a1^ffe	involves: C3H/HeJ * C57BL/6J	MGI:3700662
ht3	Slc40a1^ffe/Slc40a1^+	either: (involves: 129X1/SvJ * C57BL/6J) or (involves: C3H/HeJ * C57BL/6J)	MGI:3700665

Genotype
MGI:3700663

hm1

• Allelic Composition: Slc40a1^ffe/Slc40a1^ffe
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

mortality/aging

prenatal lethality, complete penetrance ( J:118592 )

• mid-gestational lethality

hematopoietic system

anemia ( J:118592 )

• severe anemia

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:118592 )

N • Background Sensitivity: generalized edema is not seen in mice crossed onto a 129X1/SvJ background, unlike mice on a mixed background including C3H/HeJ

nervous system

nervous system phenotype ( J:118592 )

N • Background Sensitivity: no neural tube defects are seen in mice crossed onto a 129X1/SvJ background, unlike mice on a mixed background including C3H/HeJ

N • Background Sensitivity: forebrain truncations are not seen in mice crossed onto a 129X1/SvJ background, unlike mice on a mixed background including C3H/HeJ

vision/eye

vision/eye phenotype ( J:118592 )

N • Background Sensitivity: microphthalmia is not seen in mice crossed onto a 129X1/SvJ background, unlike mice on a mixed background including C3H/HeJ

Genotype
MGI:3700662

hm2

• Allelic Composition: Slc40a1^ffe/Slc40a1^ffe
• Genetic Background: involves: C3H/HeJ * C57BL/6J

mortality/aging

prenatal lethality, complete penetrance ( J:118592 )

• mid-gestational lethality

hematopoietic system

anemia ( J:118592 )

• severe anemia

homeostasis/metabolism

edema ( J:118592 )

• Background Sensitivity: generalized edema is seen on a mixed background including C3H/HeJ but not in mice crossed onto 129X1/SvJ background

nervous system

abnormal neural tube closure ( J:118592 )

• Background Sensitivity: neural tube closure defects are seen on a mixed background including C3H/HeJ but not in mice crossed onto 129X1/SvJ background

abnormal forebrain development ( J:118592 )

• Background Sensitivity: forebrain truncations are seen on a mixed background including C3H/HeJ but not in mice crossed onto 129X1/SvJ background

vision/eye

microphthalmia ( J:118592 )

• Background Sensitivity: microphthalmia is seen on a mixed background including C3H/HeJ but not in mice crossed onto 129X1/SvJ background

embryo

abnormal neural tube closure ( J:118592 )

• Background Sensitivity: neural tube closure defects are seen on a mixed background including C3H/HeJ but not in mice crossed onto 129X1/SvJ background

Genotype
MGI:3700665

ht3

• Allelic Composition: Slc40a1^ffe/Slc40a1⁺
• Genetic Background: either: (involves: 129X1/SvJ * C57BL/6J) or (involves: C3H/HeJ * C57BL/6J)

homeostasis/metabolism

increased circulating ferritin level ( J:118592 )

• serum ferritin levels are increased 10-fold compared to wild-type mice at 6 months of age and levels continue to increase with age

increased circulating unsaturated transferrin level ( J:118592 )

• at 6 months of age transferrin saturation in serum is much lower than in wild-type mice

increased liver iron level ( J:118592 )

• aged mice accumulate high levels of iron in Kupffer cells

hematopoietic system

anemia ( J:118592 )

• mild anemia

abnormal erythrocyte morphology ( J:118592 )

decreased mean corpuscular hemoglobin ( J:118592 )

• some hypochromic red cells are present in blood smears

anisocytosis ( J:118592 )

• some hypochromic red cells with variable size are present in blood smears

leptocytosis ( J:118592 )

• some target cells are present in blood smears

abnormal macrophage physiology ( J:118592 )

• iron loaded macrophages are not able to export iron as efficiently as wild-type cells

immune system

abnormal macrophage physiology ( J:118592 )

• iron loaded macrophages are not able to export iron as efficiently as wild-type cells

liver/biliary system

increased liver iron level ( J:118592 )

• aged mice accumulate high levels of iron in Kupffer cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 4		DOID:0111028	OMIM:606069	J:118592