| Primary Identifier | MGI:1857755 | Allele Type | Spontaneous |
| Gene | Slc11a1 | Inheritance Mode | Recessive |
| Strain of Origin | multiple strains | Is Recombinase | false |
| Is Wild Type | false |
| description | 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) |
| molecularNote | This 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. |
