Slc40a1^tm1Nca
Targeted Allele Detail

Summary

• Symbol: Slc40a1^tm1Nca
• Name: solute carrier family 40 (iron-regulated transporter), member 1; targeted mutation 1, Nancy C Andrews
• MGI ID: MGI:3771547
• Synonyms: Fpn^null
• Gene: Slc40a1 Location: Chr1:45947228-45965683 bp, - strand Genetic Position: Chr1, 23.96 cM, cytoband B
• Alliance: Slc40a1^tm1Nca page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:129846
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A floxed neo-cassette replaced exon 6 and part of exon 7 encoding amino acids 172 - 338 including 3 of the 10 predicted transmembrane segments. Immunohistochemical analysis confirmed the absence of protein in a subset of embryos from heterozygous crosses. (J:129846)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Slc40a1^tm1Nca/Slc40a1^tm1Nca	involves: 129S4/SvJae * 129S6/SvEvTac
ht2	Slc40a1^tm1Nca/Slc40a1^+	involves: 129S4/SvJae * 129S6/SvEvTac

Phenotypes:

Affected Systems	hm1	ht2
show or hide all annotated terms
embryo	√
decreased embryo size	√
growth/size/body	√
decreased embryo size	√
hematopoietic system		√
hematopoietic system phenotype		N
decreased hemoglobin content		√
decreased mean corpuscular volume		√
increased spleen iron level		√
homeostasis/metabolism		√
increased spleen iron level		√
decreased liver iron level		√
immune system		√
increased spleen iron level		√
liver/biliary system		√
decreased liver iron level		√
mortality/aging	√
embryonic lethality between implantation and somite formation, incomplete penetrance	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht2
hemochromatosis type 4 IDs hemochromatosis type 4       DOID:0111028 MESH:C537249 OMIM:606069 ORDO:139491 UMLS_CUI:C1853733 Close

Expression

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Slc40a1 Mutation: 54 strains or lines available

References

• Original: J:129846 Donovan A, et al., The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis. Cell Metab. 2005 Mar;1(3):191-200
• All: 2 reference(s)