RGD Reference Report - Fused pulmonary lobes is a rat model of human Fraser syndrome. - Rat Genome Database

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Fused pulmonary lobes is a rat model of human Fraser syndrome.

Authors: Kiyozumi, Daiji  Nakano, Itsuko  Takahashi, Ken L  Hojo, Hitoshi  Aoyama, Hiroaki  Sekiguchi, Kiyotoshi 
Citation: Kiyozumi D, etal., Biochem Biophys Res Commun. 2011 Jul 29;411(2):440-4. doi: 10.1016/j.bbrc.2011.06.174. Epub 2011 Jul 2.
RGD ID: 13464328
Pubmed: PMID:21756877   (View Abstract at PubMed)
DOI: DOI:10.1016/j.bbrc.2011.06.174   (Journal Full-text)

Fused pulmonary lobes (fpl) is a mutant gene that is inherited in an autosomal recessive manner and causes various developmental defects, including fusion of pulmonary lobes, and eyelid and digit anomalies in rats. Since these developmental defects closely resemble those observed in patients with Fraser syndrome, a recessive multiorgan disorder, and its model animals, we investigated whether the abnormal phenotypes observed in fpl/fpl mutant rats are attributable to a genetic disorder similar to Fraser syndrome. At the epidermal basement membrane in fpl/fpl mutant neonates, the expression of QBRICK, a basement membrane protein whose expression is attenuated in Fraser syndrome model mice, was greatly diminished compared with control littermates. Quantitative RT-PCR analyses of Fraser syndrome-related genes revealed that Frem2 transcripts were markedly diminished in QBRICK-negative embryos. Genomic DNA sequencing of the fpl/fpl mutant identified a nonsense mutation that introduced a stop codon at serine 2005 in Frem2. These findings indicate that the fpl mutant is a rat model of human Fraser syndrome.

Disease Annotations    
Fraser syndrome 2  (IAGP,ISO)

Phenotype Annotations    

Mammalian Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Frem2  (FRAS1 related extracellular matrix 2)
Frem2fpl  (Fras1 related extracellular matrix protein 2;fpl mutant)

Genes (Mus musculus)
Frem2  (Fras1 related extracellular matrix protein 2)

Genes (Homo sapiens)
FREM2  (FRAS1 related extracellular matrix 2)

FPL/Iet  (Fused pulmonary lobes, FPL)

Additional Information