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. (J:4762, J:20139, J:35004)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
multiple strains
Spontaneous
Single point
Recessive
1
3
69

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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