A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
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ABSTRACT:
SUBMITTER: Hims MM
PROVIDER: S-EPMC1976430 | biostudies-literature | 2007 Sep
REPOSITORIES: biostudies-literature
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A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
Hims Matthew M MM Shetty Ranjit S RS Pickel James J Mull James J Leyne Maire M Liu Lijuan L Gusella James F JF Slaugenhaupt Susan A SA
Genomics 20070717 3
Familial dysautonomia (FD) is a severe hereditary sensory and autonomic neuropathy, and all patients with FD have a splice mutation in the IKBKAP gene. The FD splice mutation results in variable, tissue-specific skipping of exon 20 in IKBKAP mRNA, which leads to reduced IKAP protein levels. The development of therapies for FD will require suitable mouse models for preclinical studies. In this study, we report the generation and characterization of a mouse model carrying the complete human IKBKAP ...[more]
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