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QTL Variant Detail
QTL variant: Cnes5CBA/J
Name: C. neoformans susceptibility locus 5; CBA/J
MGI ID: MGI:5792722
QTL: Cnes5  Location: Chr9:113746658-113746658 bp  Genetic Position: Chr9, Syntenic
Strain of Specimen:  CBA/J
Allele Type:    QTL
Inheritance:    Not Specified

Mapping and Phenotype information for this QTL, its variants and associated markers


The goal of the present study was to characterize the inflammatory response of C3H/HeN mice following C. neoformans pulmonary infection and to identify genetic loci that regulate host defense. Inbred C3H/HeN mice develop a significantly greater lung fungal burden than mice of the resistant CBA/J strain 4 weeks following intratracheal infection with C. neoformans ATCC 24067. Using the fungal burden at 4 weeks postinfection as a phenotype and 94 informative SNP markers, genome-wide QTL analysis among 435 segregating (C3H/HeN x CBA/J) F2 hybrid mice (217 female, 218 male) identified two significant QTL on Chromosomes 1 (Cnes4) and 9 (Cnes5) that control susceptibility to cryptococcal pneumonia in an additive manner. Susceptible C3H/HeN mice carry a resistance allele at Cnes4 and a susceptibility allele at Cnes5.

QTL Cnes4 (C. neoformans susceptibility locus 4) maps to Chromosome 1 from 128.85 - 179.27 Mb with a peak LOD score of 5.79 (P=0.0001) at 163.55 Mb (rs30599866). The C3H/HeN allele at the Cnes4 locus confers resistance to C. neoformans infection.

QTL Cnes5 (C. neoformans susceptibility locus 5) maps to Chromosome 9 from 83.13 - 122.75 Mb with a peak LOD score of 5.47 (P=0.0002) at 113.82 Mb (rs30136669). The C3H/HeN allele at the Cnes5 locus confers susceptibility to C. neoformans infection.

For both Cnes4 and Cnes5, the additive model gave the highest probability of linkage (P=0.0001 and P=0.003 for rs30599866 and rs30136669, respectively; for the recessive model, P=0.0004 and P=0.0006, respectively; under the dominant model, all P values were >0.07). There were no significant pairwise interactions.

Original:  J:190641 Carroll SF, et al., Susceptibility to progressive Cryptococcus neoformans pulmonary infection is regulated by loci on mouse chromosomes 1 and 9. Infect Immun. 2012 Dec;80(12):4167-76
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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