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Article

Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice.

G3 (Bethesda, Md.) - 9 Aug 2016

Ha Seungshin, Lindsay Anna M, Timms Andrew E, Beier David R

Abstract excerpt

We have previously described a forward genetic screen in mice for abnormalities of brain development. Characterization of two hydrocephalus mutants by whole-exome sequencing after whole-genome SNP mapping revealed novel recessive mutations in Dnaaf1 and Lrrc48 Mouse mutants of these two genes have not been previously reported. The Dnaaf1 mutant carries a mutation at the splice donor site of exon 4, which results...

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Identifiers

PMID: 27261005
DOI: 10.1534/g3.116.030791
PMCID: PMC4978901

Genes

DNAH9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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