RGD Reference Report - Genetic analysis of inherited hydrocephalus in a rat model. - Rat Genome Database

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Genetic analysis of inherited hydrocephalus in a rat model.

Authors: Jones, HC  Yehia, B  Chen, GF  Carter, BJ 
Citation: Jones HC, etal., Exp Neurol 2004 Nov;190(1):79-90.
RGD ID: 1302890
Pubmed: PMID:15473982   (View Abstract at PubMed)
DOI: DOI:10.1016/j.expneurol.2004.06.019   (Journal Full-text)

Congenital hydrocephalus is a serious neurological disorder with a diverse etiology. Although there is strong evidence for genetic causes, few genes have been identified in humans. The rodent model, the H-Tx rat, has hydrocephalus with an onset in late gestation and a complex mode of inheritance. Ventricular dilatation is associated with abnormalities in the cerebral aqueduct and subcommissural organ. Quantitative trait locus (QTL) mapping was performed on DNA from the progeny of a backcross with the non-hydrocephalic Fischer F344 strain, using DNA microsatellite markers. The hydrocephalus trait was quantified by measuring the severity of the ventricular dilatation. Four chromosomes, each with a locus for hydrocephalus (Chrs 9, 10, 11, and 17), were mapped using additional markers and DNA from four subsets of backcross progeny with allelic recombination at or near each locus. The genetic positions for the markers and the loci were located using the Ensemble Rat Genome Browser. For each chromosome studied, the interval containing the locus was examined for known rat genes and for human genes identified from human-rat homology. Genes expressed in brain and with a function associated with known causes of hydrocephalus were identified as possible candidate genes. Future studies to characterize the causative genes in this animal model will improve the understanding of genetic causes in humans.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hydrocephalus  QTM 1302890; 1302890; 1302890; 1302890; 1302890 RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
abnormal brain ventricle morphology  QTM 1302890; 1302890; 1302890; 1302890; 1302890 RGD 
hydrocephaly  QTM 1302890; 1302890; 1302890; 1302890; 1302890 RGD 
Objects Annotated

Bvd1  (Brain ventricular dilatation QTL 1)
Bvd2  (Brain ventricular dilatation QTL 2)
Bvd3  (Brain ventricular dilatation QTL 3)
Bvd4  (Brain ventricular dilatation QTL 4)
Bvd5  (Brain ventricular dilatation QTL 5)

F344/NHsd  (F344/NHsd)
HTX/Hcj  (NA)

Additional Information