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Identification of quantitative trait loci that modify the severity of hereditary spherocytosis in wan, a new mouse model of band-3 deficiency.

Blood - 15 Apr 2004

Peters Luanne L, Swearingen Rebecca A, Andersen Sabra G, Gwynn Babette, Lambert Amy J, Li Renhua, Lux Samuel E, Churchill Gary A

Abstract excerpt

Defects in red blood cell (RBC) membrane skeleton components cause hereditary spherocytosis (HS). Clinically, HS varies significantly even among individuals with identical gene defects, illustrating the profound effects of genetic background on disease severity. We exploited a new spontaneous mouse model, wan, which arose on the inbred C3H/HeJ strain, to identify quantitative trait loci (QTL) that modify the HS...

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PMID: 15070709
DOI: 10.1182/blood-2003-08-2813

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