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Spontaneous Allele Detail
Symbol: Slc11a1s
Name: solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1; pathogen susceptibility (Bcg/Ity/Lsh)
MGI ID: MGI:1857755
Synonyms: Bcgs, Itys, Lshs, Nramp1-, Nramp1Asp169, Nramp1D169, Slc11a1rs47476426-A
Gene: Slc11a1  Location: Chr1:74414354-74425221 bp, + strand  Genetic Position: Chr1, 38.54 cM
Strain of Origin:  multiple strains
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsThis allele is associated with susceptibility to infection by diverse pathogens, including several Mycobacterium species, Salmonella typhimurium, and Leishmania donovani. The causative mutation results in the non-conservative replacement of glycine by aspartic acid at amino acid position 169, within the fourth transmembrane domain of the protein (Gly169Asp or G169D). Glycine at this position is evolutionarily conserved in rat, human, rabbit and chicken orthologous proteins. D169 is associated with the A variant of SNP rs47476426 and is found in reference strain C57BL/6, BALB/cJ and FVB/NJ. 129P2/OlaHsd, 129S1/SvImJ, 129S5SvEvBrd, C3H/HeJ and most other strains have the G variant of the SNP, coding for glycine at position 169, that confers resistance. (J:4762, J:20139, J:35004)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
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 Slc11a1 Mutation:  32 strains or lines available
Cation concentrations would be elevated in macrophages from mice carrying mutations that alter Slc11a1 transport function, i.e. the Slc11a1s allele, rendering susceptibility to infection. This model is supported by the observation that mice normally resistant to Mycobacterium avium infection loose their advantage over Slc11a1s mice when exposed to an excess of iron.(J:50686)

The point mutation associated with the susceptible phenotype was initially identified as Gly105Arg. In J:25627 (1995), the authors report that the full-length mRNA encodes a protein 64 amino acids longer at the N-terminus than previously reported, including two additional transmembrane domains. Therefore, the actual amino acid substitution is Gly169Arg. The nucleotides cannot be assigned numbers because the gene contains no TATA or CAAT element and has multiple transcription initiation sites. (J:25627)

Strains carrying this allele include BALB/cJ, C57BL/6J, C57BL/10J, CE/J, DBA/1J, MOLF/Ei, NZW/LacJ, SWV. (J:4762, J:20139)
Original:  J:24667 Webster LT, Inherited and acquired factors in resistance to infection. I. Development of resistant and susceptible lines of mice through selective breeding. J Exp Med. 1933;57:793-843
All:  68 reference(s)

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)
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last database update
MGI 6.17
The Jackson Laboratory