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3' untranslated region; animal experiment; animal model; animal tissue; artery calcification; Article; asj 2J mouse; asj mouse; autosomal recessive disorder; Bagg albino mouse; controlled study; dietary intake; Enpp1 gene; female; gait disorder; gene; generalized arterial calcification of infancy; genetic complementation; genome size; histopathology; indel mutation; intron; joint stiffness; large scale production; micro-computed tomography; missense mutation; molecular pathology; mouse; mouse model; mutant mouse strain; mutational analysis; nonhuman; phenotype; polymerase chain reaction; protein blood level; strain difference; vibrissa
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Full-Text Articles in Dermatology
Spontaneous Asj-2j Mutant Mouse As A Model For Generalized Arterial Calcification Of Infancy: A Large Deletion/Insertion Mutation In The Enpp1 Gene., Qiaoli Li, C Herbert Pratt, Louise A Dionne, Heather Fairfield, Son Yong Karst, John P Sundberg, Jouni Uitto, Yin Tintut
Spontaneous Asj-2j Mutant Mouse As A Model For Generalized Arterial Calcification Of Infancy: A Large Deletion/Insertion Mutation In The Enpp1 Gene., Qiaoli Li, C Herbert Pratt, Louise A Dionne, Heather Fairfield, Son Yong Karst, John P Sundberg, Jouni Uitto, Yin Tintut
Department of Dermatology and Cutaneous Biology Faculty Papers
Generalized arterial calcification of infancy (GACI), an autosomal recessive disorder caused by mutations in the ENPP1 gene, manifests with extensive mineralization of the cardiovascular system. The affected individuals in most cases die within the first year of life, and there is currently no effective treatment for this disorder. In this study, we characterized a spontaneous mutant mouse, asj-2J, as a model for GACI. These mice were identified as part of a phenotypic deviant search in a large-scale production colony of BALB/cJ mice at The Jackson Laboratory. They demonstrated a characteristic gait due to stiffening of the joints, with phenotypic similarity …