Animal models of neural tube defects

Juriloff, D. M.; Harris, Muriel J.

doi:10.1002/(sici)1098-2779(1998)4:4<254::aid-mrdd4>3.0.co;2-m

Cited by 6 publications

(4 citation statements)

References 105 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Animal models are essential for studying experimentally the ways that these dietary factors modulate protein functions, biochemical pathways, and developmental processes during neural tube formation [21]–[26],[28],[34]. In the present study, we found that parental FA supplementation did not protect embryos either from exencephaly in Apob −/− embryos or from craniorachischisis and looped-tail phenotypes in Lp −/− and Lp +/− embryos (Table 1).…”

Section: Discussionmentioning

confidence: 99%

“…We reviewed the literature to determine whether similar genotypic deviations without embryo loss had been reported in other NTD diet-supplementation studies. Responses of several NTD models to various nutrients have been tested, with some showing responsiveness and others resistance to supplementation or to deprivation [21]–[26],[28],[34]. Data in some reports are consistent with normal Mendelian segregation in both test and control groups [18]–[20],[23],[25],[34].…”

Section: Discussionmentioning

confidence: 99%

“…The Apob tm1Unc mutant is the result of a genetically engineered loss-of-function (LOF) mutation in the Apob gene [27]. Apob homozygous embryos show a 30% penetrance of exencephaly alone or accompanied with hydrocephalus [27], see also [28] (Figure 1A vs B). By 8 weeks of age, mutants that have a closed neural tube show hydrocephalus in 32% of homozygotes and in 1% of heterozygotes.…”

Section: Introductionmentioning

confidence: 99%

“…VANGL2 protein is one of two highly conserved membrane proteins involved in establishing planar cell polarity (PCP) and in regulating convergent extension movements during embryogenesis [29]. The Vangl2 Lp mutant results from a spontaneous LOF mutation in the Vangl2 gene [29], see also [28]. Lp homozygous embryos have a 100% penetrance of craniorachischisis due to failure to initiate neural tube closure at embryonic day E8.5 [30] (Figure 1A vs C).…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Does dietary folic acid supplementation in mouse NTD models affect neural tube development or gamete preference at fertilization?

Nakouzi

Nadeau

2014

BMC Genet

View full text Add to dashboard Cite

BackgroundNeural tube defects (NTDs) are the second most common birth defect in humans. Dietary folic acid (FA) supplementation effectively and safely reduces the incidence of these often debilitating congenital anomalies. FA plays an established role in folate and homocysteine metabolism, but the means by which it suppresses occurrence of NTDs is not understood. In addition, many cases remain resistant to the beneficial effects of folic acid supplementation. To better understand the molecular, biochemical and developmental mechanisms by which FA exerts its effect on NTDs, characterized mouse models are needed that have a defined genetic basis and known response to dietary supplementation.ResultsWe examined the effect of FA supplementation, at 5-fold the level in the control diet, on the NTD and vertebral phenotypes in Apob tm1Unc and Vangl2 Lp mice, hereafter referred to as Apob and Lp respectively. The FA supplemented diet did not reduce the incidence or severity of NTDs in Apob or Lp mutant homozygotes or the loop-tail phenotype in Lp mutant heterozygotes, suggesting that mice with these mutant alleles are resistant to FA supplementation. Folic acid supplementation also did not affect the rate of resorptions or the size of litters, but instead skewed the embryonic genotype distribution in favor of wild-type alleles.ConclusionSimilar genotypic biases have been reported for several NTD models, but were interpreted as diet-induced increases in the incidence and severity of NTDs that led to increased embryonic lethality. Absence of differences in resorption rates and litter sizes argue against induced embryonic lethality. We suggest an alternative interpretation, namely that FA supplementation led to strongly skewed allelic inheritance, perhaps from disturbances in polyamine metabolism that biases fertilization in favor of wild-type gametes.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Does dietary folic acid supplementation in mouse NTD models affect neural tube development or gamete preference at fertilization?

Nakouzi

Nadeau

2014

BMC Genet

View full text Add to dashboard Cite

show abstract

Mini-review: toward understanding mechanisms of genetic neural tube defects in mice

1999

View full text Add to dashboard Cite

Maternal diet alters exencephaly frequency in SELH/Bc strain mouse embryos

Harris

Juriloff

2005

Birth Defects Research

View full text Add to dashboard Cite

The frequency of exencephaly in SELH/Bc embryos is strongly influenced by a specific unidentified aspect of the commercial ration Purina 5001 that prevents 55-85% of exencephaly in SELH/Bc embryos, when directly compared with an alternative commercial ration Purina 5015 or its semisynthetic mimic. This strong maternal diet effect on NTD frequency may point to novel nutritional approaches to prevention of human NTDs.

show abstract

Animal models of neural tube defects

Cited by 6 publications

References 105 publications

Does dietary folic acid supplementation in mouse NTD models affect neural tube development or gamete preference at fertilization?

Does dietary folic acid supplementation in mouse NTD models affect neural tube development or gamete preference at fertilization?

Mini-review: toward understanding mechanisms of genetic neural tube defects in mice

Maternal diet alters exencephaly frequency in SELH/Bc strain mouse embryos

Contact Info

Product

Resources

About