Phenotypes associated with this allele

• Allele Symbol: Slc40a1^tm1Nca
• Allele Name: targeted mutation 1, Nancy C Andrews
• Allele ID: MGI:3771547
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc40a1^tm1Nca/Slc40a1^tm1Nca	involves: 129S4/SvJae * 129S6/SvEvTac	MGI:3771549
ht2	Slc40a1^tm1Nca/Slc40a1^+	involves: 129S4/SvJae * 129S6/SvEvTac	MGI:3771550

Genotype
MGI:3771549

hm1

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

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

mortality/aging

embryonic lethality between implantation and somite formation, incomplete penetrance ( J:129846 )

• almost all embryos die by E7.5 with only one embryo found at E7.5 and one found at E8.5

embryo

decreased embryo size ( J:129846 )

• at E7.0 embryos are significantly smaller than heterozygous and wild-type littermates

growth/size/body

decreased embryo size ( J:129846 )

• at E7.0 embryos are significantly smaller than heterozygous and wild-type littermates

Genotype
MGI:3771550

ht2

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

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