Literature summary for 1.1.1.300 extracted from

Friedl, R.M.; Raja, S.; Metzler, M.A.; Patel, N.D.; Brittian, K.R.; Jones, S.P.; Sandell, L.L.
RDH10 function is necessary for spontaneous fetal mouth movement that facilitates palate shelf elevation (2019), Dis. Model. Mech., 12, dmm039073 .

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Protein Variants

Protein Variants	Comment	Organism
additional information	generation of embryonic stage-specific inactivation of retinol dehydrogenase 10 (Rdh10). Stage-specific inactivation of retinol metabolism in Rdh10delta/flox mutant embryos serves as a model for vitamin A/retinoid-deficient cleft palate. Conditional inactivation of Rdh10 causes cleft palate. Nuclear fluorescence imaging of Rdh10flox + control and Rdh10delta/flox mutant embryos at E16.5 reveals complete cleft of the secondary palate in 36% of mutant embryos. For insight into the tissue architecture in cleft palates of Rdh10delta/flox mutant embryos, hematoxylin and eosin staining of paraffin sections is performed. At E13.5, the palate shelf morphology of Rdh10delta/flox mutant embryos resembled that of Rdh10flox/+ control littermates, with palate shelves aligned vertically on either side of the tongue. Using the ubiquitously expressed Cre-ERT2, the genotype of embryos with a floxed allele changes following administration of tamoxifen. Embryos with a pre-tamoxifen genotype of Rdh10flox/+ become Rdh10delta/+ post-tamoxifen. Embryos with a pretamoxifen genotype of Rdh10delta/flox or Rdh10flox/flox become Rdh10delta/delta post-tamoxifen treatment. Cleft palate was not observed in any Rdh10flox/+ control embryos. Rdh10delta/flox mutants have abnormally positioned tongues that obstruct palate shelf elevation, mutant morphologies, overview. No defect in the intrinsic tongue muscles is detected in mutant embryos relative to control littermates. The morphogenesis of tongue musculature is grossly normal in retinoid-deficient embryos, suggesting the abnormal tongue shape does not result from aberrant muscle morphogenesis. Spontaneous fetal mouth movement in utero is restricted in Rdh10delta/flox mutant embryos. Rdh10delta/flox mutant embryos have defects in motor nerves of the posterior pharyngeal arches. Retinoid-deficient embryos develop defects in the pharyngeal skeleton. Retinoid-deficient embryos develop defects in the pharyngeal skeleton	Mus musculus

Organism

Organism	UniProt	Comment	Textmining
Mus musculus	Q8VCH7	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
embryo	at different stages	Mus musculus	-
palate	-	Mus musculus	-

Synonyms

Synonyms	Comment	Organism
RDH10	-	Mus musculus
retinol dehydrogenase 10	-	Mus musculus

General Information

General Information	Comment	Organism
malfunction	fetal mouth movement defects are correlated with cleft palate, cleft palate in retinoid deficiency results from a lack of fetal mouth movement. Mouse embryos deficient in retinoic acid (RA) have mispatterned pharyngeal nerves and skeletal elements that block spontaneous fetal mouth movement in utero. Embryos with deficient retinoid signaling are generated by stagespecific inactivation of retinol dehydrogenase 10 (Rdh10), a gene crucial for the production of RA during embryogenesis. Rdh10+ denotes the wild-type allele, Rdh10delta denotes a targeted knockout null allele with exon 2 deleted, and Rdh10flox is a floxed allele in which exon 2 is excised upon exposure to Cre recombinase thereby converting to Rdh10delta. Disruption of RA production at different embryonic stages can produce a variety of phenotypes, analysis of palate morphology in Rdh10flox/+ control and Rdh10delta/flox mutant embryos, overview	Mus musculus
physiological function	enzyme retinol dehydrogenase 10 (Rdh10) is crucial for the production of retinoic acid (RA) during embryogenesis, its function is necessary for spontaneous fetal mouth movement that facilitates palate shelf elevation. Proper retinoid signaling and pharyngeal patterning are crucial for the fetal mouth movement needed for palate formation. Vitamin A metabolism and RA production are essential for viability in the early organogenesis stages of development	Mus musculus

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Release 2023.1 (January 2023)