Alaa1^C3H/HeJ
QTL Variant Detail

Summary

• QTL variant: Alaa1^C3H/HeJ
• Name: alopecia areata; C3H/HeJ
• MGI ID: MGI:2670679
• QTL: Alaa1 Location: unknown Genetic Position: Chr17, Syntenic

Variant origin

• Strain of Specimen: C3H/HeJ

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers susceptibility to alopecia areata compared to C57BL/6J. (J:83350)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

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

J:83350

352 (C3H/HeJ x C57BL/6J)F2 female animals were screened for 211 microsatellite markers to identify QTLs associated with alopecia areata. Up to 20% of female animals from parental strain C3H/HeJ develop alopecia areata after 5 months of age (males developalopecia later) whereas animals from parental strain C57BL/6J are resistant to the condition.

Significant linkage was detected at 16.9 cM on mouse Chromosome 17 with a peak LOD=10.9 at D17Mit134. This locus is named Alaa1 (alopecia areata 1) and spans aninterval from 12 cM - 20 cM. Possible candidate genes mapping to this region are the H2 locus, Tnf, Lta, and Ltb. C3H.SW-H2b/SnJ congenic animals carrying a resistant H2b allele on a susceptible C3H/HeJ background do not develop alopecia giving evidence of the role of H2 in this phenotype. The Alaa1 region corresponds to region associated with alopecia areata in human gene studies.

A suggestive locus mapped to 20 cM on mouse Chromosome 9 with LOD=2.0 at D9Mit206.

J:91218

Genome scan using 219 polymorphic markers was performed on 1096 female animals from a (C3H/HeJ x C57BL/6J)F2 intercross to identify QTLs associated with autoimmune alopecia areata. Parental strain C3H/HeJ develops spontaneous adult onset alopecia areata whereas parental strain C57BL/6J is resistant.

Previously identified QTL Alaa1 was detected in this study. Alaa1 shows peak linkage at 16.4 cM on mouse Chromosome 17 with LOD=10.346. The QTL interval of Alaa1 spans 10 cM - 20 cM. Potential candidate genes in this interval include H2-Ab1 (18.64 cM), H2-Eb1 (18.66 cM), Lta (19.059 cM), Ltb (19.061 cM), and Tnf (19.06 cM). Alaa1 explains 10.346% of the phenotypic variance.

A previously identified suggestive QTL on mouse Chromosome 9 was detected in this study. This locus is named Alaa2 and maps to 20 cM near D9Mit206 with LOD=2.139. The QTL interval of Alaa2 spans 10 cM - 26 cM. Potential candidate genes for Alaa2 include Crtam (20.5 cM), Cd3d (26 cM), Cd3e (26 cM), Cd3g (26 cM), Il10ra (26 cM),Thy1 (26 cM), and Ncam1 (28 cM). Alaa2 explains 2.149% of the phenotypic variance.

A new QTL mapped in this experiment is Alaa3 at 32 cM on mouse Chromosome 8 (LOD=2.411 at D8Mit132). The QTL interval of Alaa3 spans 22.5 cM - 38.5 cM. Potential candidate genes found in this interval include Casp3 (26 cM), Jak3 (33 cM), Il12rb1 (33.5 cM), and Il15 (38 cM). Alaa3 explains 2.427% of the phenotypic variance.

A new QTL mapped in this experiment is Alaa4 at 28 cM on mouse Chromosome 15 (LOD=2.791 at D15Mit270). The QTLinterval of Alaa4 spans 19.7 cM - 46.6 cM. Potential candidate genes found in this interval include Trhr (27 cM), Trps1 (30.1 cM), Ly6e (41.7 cM), Il2rb (43.3 cM), Plec1 (44 cM), Adamts20 (44.4 cM), and Sox10 (46.6 cM). Alaa4 explains 2.815% of the phenotypic variance.

References

• Original: J:83350 Sundberg JP, et al., Major locus on mouse chromosome 17 and minor locus on chromosome 9 are linked with alopecia areata in C3H/HeJ mice. J Invest Dermatol. 2003 May;120(5):771-5
• All: 3 reference(s)