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Slc11a1r
Allele Detail
Nomenclature
Symbol: Slc11a1r
Name: solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1; host resistance (Bcg/Ity/Lsh)
MGI ID: MGI:1857756
Synonyms: Bcgr, Lshr, Nramp1G169, Nramp1Gly169, Slc11a1Bcg, Slc11a1Ity, Slc11a1Lsh
Gene: Slc11a1  Location: Chr1:74375195-74386062 bp, + strand  Genetic Position: Chr1, 38.54 cM
Mutation
origin
Strain of Origin:  multiple strains
Mutation
description
Allele Type:    Not Applicable
Mutation:    Not Applicable
 
Mutation detailsNatural resistance to infection with diverse pathogens, including some Mycobacterium species, Salmonella typhimurium, and Leishmania donovani, is associated with a protein having glycine at amino acid position 169, within the fourth predicted transmembrane domain (G169 or Gly169). This glycine is evolutionarily conserved in rat, human, rabbit and chicken orthologous proteins. (J:4762, J:20139, J:35004)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Slc11a1 Mutation:  29 strains or lines available
Notes
Multiple genes may be involved in the control of mycobacterial infections in inbred mice (J:17780); the early phase of these infections is controlled in Slc11a1r strains, but later phases are not (J:28278).

The point mutation associated with the susceptible phenotype (Slc11a1s) 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, and the resistant allele Gly169 (or G169). The nucleotides cannot be assigned numbers because the gene contains no TATA or CAAT element and has multiple transcription initiation sites. (J:25627)

Resistant strains include 129S4/SvJae, 129X1/SvJ, A/J, AKR/J, BUB/BnJ, C3H/HeJ, C57BR/cdJ, C57L/J, C58/J, CBA/J, DBA/2J, LP/J, NOD/ShiLt, NZB/BlNJ, P/J, PL/J, RIIIS/J, RF/J, SJL/J, SWR/J, Mus spretus (Spain). (J:4762, J:20139) Some of these strains carry silent nucleotide substitutions. (J:20139)
References
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:  69 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/07/2019
MGI 6.14
The Jackson Laboratory