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Article

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.

Genomics - 1 Sept 2007

Hims Matthew M, Shetty Ranjit S, Pickel James, Mull James, Leyne Maire, Liu Lijuan, Gusella James F, Slaugenhaupt Susan A

Abstract excerpt

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...

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Identifiers

PMID: 17644305
DOI: 10.1016/j.ygeno.2007.05.012
PMCID: PMC1976430

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.PMID 17644305Read ↗

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