Circletail, a New Mouse Mutant with Severe Neural Tube Defects: Chromosomal Localization and Interaction with the Loop-Tail Mutation

Genomics ◽  
2001 ◽  
Vol 78 (1-2) ◽  
pp. 55-63 ◽  
Author(s):  
Jennifer N Murdoch ◽  
Rivka A Rachel ◽  
Saima Shah ◽  
Friedrich Beermann ◽  
Philip Stanier ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Chromosomal Localization ◽  
Mouse Mutant

scholarly journals 13-P098 Identification of chuzhoi, a novel mouse mutant of Ptk7 with severe neural tube defects

2009 ◽  
Vol 126 ◽  
pp. S224
Author(s):  
Anju Paudyal ◽  
Christine Damrau ◽  
Alexander Ermakov ◽  
Zuzanna Lalanne ◽  
Sara Wells ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Mouse Mutant

scholarly journals Quantitative trait loci affecting phenotypic variation in the vacuolated lens mouse mutant, a multigenic mouse model of neural tube defects

2008 ◽  
Vol 35 (3) ◽  
pp. 296-304 ◽  
Author(s):  
Ron Korstanje ◽  
Jigar Desai ◽  
Gloria Lazar ◽  
Benjamin King ◽  
Jarod Rollins ◽  
...  
Keyword(s):  
Quantitative Trait Loci ◽  
Mouse Model ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Quantitative Trait ◽  
Genetic Background ◽  
Skin Pigmentation ◽  
Mouse Mutant ◽  
Trait Loci ◽  
Coding Variants

The vacuolated lens ( vl) mouse mutant arose spontaneously on the C3H/HeSn background and exhibits neural tube defects (NTDs), congenital cataract, and occasionally a white belly spot. We previously reported that 1) the vl phenotypes are due to a mutation in an orphan G protein-coupled receptor (GPCR), Gpr161; 2) the penetrance of the vl NTD and cataract phenotypes are affected by genetic background, allowing three unlinked quantitative trait loci (QTL) to be mapped (modifiers of vacuolated lens, Modvl1-3); and 3) phenotype-based bioinformatics followed by genetic and molecular analysis identified a lens-specific transcription factor that contributes to the cataract-modifying effect of Modvl3. We now extend this analysis in three ways. First, using the Gpr161 mutation to unequivocally identify mutant adults and embryos, we determined that ∼50% of vl/vl NTD-affected embryos die during development. Second, the MOLF/Ei genetic background suppresses this embryonic lethality but increases the incidence of the adult belly spot phenotype. Additional QTL analysis was performed, and two novel modifiers were mapped [ Modvl4, logarithm of odds ratio (LOD) 4.4; Modvl5, LOD 5.0]. Third, phenotype-based bioinformatics identified candidate genes for these modifiers including two GPCRs that cause NTD or skin/pigmentation defects ( Modvl4: Frizzled homolog 6; Modvl5: Melanocortin 5 receptor). Because GPCRs form oligomeric complexes, these genes were resequenced and nonsynonymous coding variants were identified. Bioinformatics and protein modeling suggest that these variants may be functional. Our studies further establish vl as a multigenic mouse model for NTDs and identify additional QTL that interact with Gpr161 to regulate neurulation.

Lessons from dolutegravir and neural tube defects

2021 ◽  
Vol 8 (1) ◽  
pp. e3-e4
Author(s):  
Elaine Abrams ◽  
Landon Myer
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects

A Public Health Success Story: Folic Acid Fortification and Supplementation for Prevention of Neural Tube Defects

2004 ◽  
Author(s):  
Linda Longerich ◽  
Roy West ◽  
Ed Randell ◽  
Marian Crowley ◽  
Shiliang Liu ◽  
...  
Keyword(s):  
Public Health ◽  
Folic Acid ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Success Story ◽  
Folic Acid Fortification

Detection of spina bifida in the first trimester of gestation in association with triploidy

2017 ◽  
Author(s):  
K.K. Otaryan , C.G. Gagaev
Keyword(s):  
Spina Bifida ◽  
Early Detection ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
First Trimester ◽  
Termination Of Pregnancy ◽  
Diagnostic Tools ◽  
Prenatal Detection ◽  
Post Abortion

The case of prenatal detection of spina bifida at 12+3 weeks of gestation is described. Termination of pregnancy was performed at 13+3 weeks. Post-abortion karyotyping revealed triploidy (69XXX). Diagnostic tools for early detection of neural tube defects in the 1st trimester of gestation and subsequent appropriate management of pregnancy are discussed.

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