Allele/Variant

Slc11a1s

Species
Mus musculus
Symbol
Slc11a1s
Category
allele
Allele of gene
Slc11a1
Transgenic Constructs
None
Synonyms
  • Bcgs
  • Itys
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations