Slc11a1^r
Allele Detail

Summary

• Symbol: Slc11a1^r
• Name: solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1; host resistance (Bcg/Ity/Lsh)
• MGI ID: MGI:1857756
• Synonyms: Bcg^r, Lsh^r, Nramp1^G169, Nramp1^Gly169, Slc11a1^Bcg, Slc11a1^Ity, Slc11a1^Lsh, Slc11a1^rs47476426-G
• Gene: Slc11a1 Location: Chr1:74414354-74425221 bp, + strand Genetic Position: Chr1, 38.54 cM
• Alliance: Slc11a1^r page

Mutation origin

• Strain of Origin: multiple strains

Mutation description

• Allele Type: Not Applicable
• Mutation: Not Applicable
• Mutation details: Natural 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. G169 is associated with the G variant of SNP rs47476426 and is found in 129P2/OlaHsd, 129S1/SvImJ, 129S5SvEvBrd, C3H/HeJ and most other strains. Reference strain C57BL/6, and BALB/cJ and FVB/NJ have the A variant of the SNP, coding for aspartic acid at position 169, that causes sensitivity. (J:4762, J:20139, J:35004)
• Inheritance: Dominant

Disease models

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: 40 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 Slc11a1^r strains, but later phases are not (J:28278).

The point mutation associated with the susceptible phenotype (Slc11a1^s) 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: 81 reference(s)