Genetic modulation of the iris transillumination defect: a systems genetics analysis using the expanded family of BXD glaucoma strains.

[oculocutaneous albinism]

We investigated the contributions of Tyrp 1 and Gpnmb to the iris transillumination defect (TID ) in five age cohorts of BXD mice . Using systems genetics , we also evaluated the role of other known pigmentation genes (PGs ). Mapping studies indicate that Tyrp 1 contributes to the phenotype at all ages , yet the TID maps to Gpnmb only in the oldest cohort . Composite interval mapping reveals secondary loci viz . Oca 2 , Myo 5 a , Prkcz , and Zbtb 20 that modulate the phenotype in the age groups up to 10 -13 Â months . The contributions of Tyrp 1 and Gpnmb were highly significant in all age cohorts . Moreover , in young mice , all six gene candidates had substantial interactions in our model . Our model accounted for 71 -88 % of the explained variance of the TID phenotype across the age bins . These results demonstrate that along with Tyrp 1 and Gpnmb , Oca 2 , Myo 5 a , Prkcz , and Zbtb 20 modulate the TID in an age-dependent manner .

Diseases
Validation

Diseases presenting "secondary loci viz" symptom

oculocutaneous albinism

You can validate or delete this automatically detected symptom