All Phenotypes Slc40a1<+> MGI Mouse

About Help FAQ

Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Slc40a1⁺
wild type
MGI:2437206

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Slc40a1^Pcm/Slc40a1⁺	A.Cg-Slc40a1^Pcm	MGI:4850037
ht2	Slc40a1^{tm1b(EUCOMM)Hmgu}/Slc40a1⁺	C57BL/6N-Slc40a1^{tm1b(EUCOMM)Hmgu}/H	MGI:5757727
ht3	Slc40a1^ffe/Slc40a1⁺	either: (involves: 129X1/SvJ * C57BL/6J) or (involves: C3H/HeJ * C57BL/6J)	MGI:3700665
ht4	Slc40a1^Pcm/Slc40a1⁺	involves: 101/H * C3H/HeH	MGI:4850025
ht5	Slc40a1^tm1Dgen/Slc40a1⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:3606633
ht6	Slc40a1^tm1.1Mmfe/Slc40a1⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:5607261
ht7	Slc40a1^tm1Nca/Slc40a1⁺	involves: 129S4/SvJae * 129S6/SvEvTac	MGI:3771550

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc40a1^Pcm mutation (2 available); any Slc40a1 mutation (53 available)

♀	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 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

Allelic Composition	Slc40a1^{tm1b(EUCOMM)Hmgu}/Slc40a1⁺
Genetic Background	C57BL/6N-Slc40a1^{tm1b(EUCOMM)Hmgu}/H
Cell Lines	HEPD0551_2_A07

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc40a1^{tm1b(EUCOMM)Hmgu} mutation (1 available); any Slc40a1 mutation (53 available)

Data Sources

IMPC Data for Slc40a1

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

adipose tissue

increased total body fat amount ( J:211773 )

IMPC - HAR

growth/size/body

decreased lean body mass ( J:211773 )

IMPC - HAR

homeostasis/metabolism

increased circulating triglyceride level ( J:211773 )

IMPC - HAR

skeleton

decreased bone mineral content ( J:211773 )

IMPC - HAR

decreased bone mineral density ( J:211773 )

IMPC - HAR

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc40a1^ffe mutation (1 available); any Slc40a1 mutation (53 available)

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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc40a1^Pcm mutation (2 available); any Slc40a1 mutation (53 available)

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

hematopoietic system

polycythemia ( J:30568 )

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

Allelic Composition	Slc40a1^tm1Dgen/Slc40a1⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc40a1^tm1Dgen mutation (1 available); any Slc40a1 mutation (53 available)

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

behavior/neurological

decreased thermal nociceptive threshold ( J:101679 )

• exhibit a significant decrease in thermal response latency during hot plate testing

Allelic Composition	Slc40a1^tm1.1Mmfe/Slc40a1⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc40a1^tm1.1Mmfe mutation (0 available); any Slc40a1 mutation (53 available)

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

homeostasis/metabolism

increased circulating ferritin level ( J:215585 )

• young adults exhibit high transferrin saturation and a marked increase in serum ferritin levels

decreased circulating unsaturated transferrin level ( J:215585 )

abnormal enzyme/coenzyme level ( J:215585 )

• increase in amylase and elastase levels but lower than in homozygotes

increased circulating lipase level ( J:215585 )

• increase in plasma lipase levels but lower than in homozygotes

abnormal iron homeostasis ( J:215585 )

increased pancreas iron level ( J:215585 )

• iron accumulation in the exocrine pancreas, but to a smaller extent than in homozygotes

decreased spleen iron level ( J:215585 )

• decrease in splenic iron levels at 8 and 24 weeks of age

• selective iron depletion is seen within iron-recycling macrophages of the red pulp

increased circulating iron level ( J:215585 )

increased liver iron level ( J:215585 )

hematopoietic system

decreased spleen iron level ( J:215585 )

• decrease in splenic iron levels at 8 and 24 weeks of age

• selective iron depletion is seen within iron-recycling macrophages of the red pulp

cellular

oxidative stress ( J:215585 )

• oxidative stress in the pancreas but less than in homozygotes

endocrine/exocrine glands

increased pancreas iron level ( J:215585 )

• iron accumulation in the exocrine pancreas, but to a smaller extent than in homozygotes

immune system

decreased spleen iron level ( J:215585 )

• decrease in splenic iron levels at 8 and 24 weeks of age

• selective iron depletion is seen within iron-recycling macrophages of the red pulp

liver/biliary system

increased liver iron level ( J:215585 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 4		DOID:0111028	OMIM:606069	J:215585

Allelic Composition	Slc40a1^tm1Nca/Slc40a1⁺
Genetic Background	involves: 129S4/SvJae * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc40a1^tm1Nca mutation (0 available); any Slc40a1 mutation (53 available)

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

hematopoietic system

hematopoietic system phenotype ( J:129846 )

N	• at 3 and 6 months of age mice are not anemic despite disrupted iron homeostasis

decreased hemoglobin content ( J:129846 )

• at 6 months of age, reticulocytes and mature erythrocytes have reduced cellular hemoglobin

• at 12 months of age hemoglobin content of erythrocytes remains reduced compared to wild-type controls

decreased mean corpuscular volume ( J:129846 )

• at 6 months of age, reticulocytes and mature erythrocytes have reduced cell volume

• at 12 months of age mean cell volume of erythrocytes remains reduced compared to wild-type controls

increased spleen iron level ( J:129846 )

• at 12 months of age spleen iron content is increased compared to controls

homeostasis/metabolism

increased spleen iron level ( J:129846 )

• at 12 months of age spleen iron content is increased compared to controls

decreased liver iron level ( J:129846 )

• significant reduction in liver non-heme iron at 6 and 12 months of age

immune system

increased spleen iron level ( J:129846 )

• at 12 months of age spleen iron content is increased compared to controls

liver/biliary system

decreased liver iron level ( J:129846 )

• significant reduction in liver non-heme iron at 6 and 12 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	hemochromatosis type 4	DOID:0111028	OMIM:606069	J:129846

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 03/25/2025 MGI 6.24