Table 2.
Mouse NTD models studied for responsiveness to folic acid
| Gene Name | Folic acid response | Process | Reference | ||
|---|---|---|---|---|---|
| Beneficial | Detrimental | None | |||
| Amt null | x | Involved in glycine cleavage system, part of the mitochondrial folate metabolism; implicated in human and mouse neural tube defects; responsive to methionine | (120) | ||
| Axd mutant | x | Unknown function; axial defects; responsive to methionine | (68) | ||
| Cart1 null | x | Paired-class homeobox domain-containing gene, aka Alx1 | (68) | ||
| Cited2 null | x | Required for heart morphogenesis and left-right axis determination in mouse development | (68) | ||
| Curly tail (Grhl3 mutant) | x | Transcription factor; Ct mutation is responsive to inositol and retinoic acid | (68) | ||
| Fkbp8 null | x | Member of immunophilin protein family; involved in dorsal-ventral patterning of neural tube; inositol-resistant | (68) | ||
| Folr1 null | x | Folate receptor; involved in transport of 5-MTF into the cell | (68) | ||
| Frem2m1Nisw allele | x | Extracellular matrix protein | (110) | ||
| Grhl2m1Nisw allele | x (het) | x (null) | Transcription factor | (110) | |
| Grhl3 null | x | Transcription factor | (68) | ||
| Kat2a hypomorph (GCN5) | x | Histone acetyltransferase | (68) | ||
| L3P | x | Ciliogenesis | (110) | ||
| Lrp6 null | x | Receptor or coreceptor (with Frizzled) of Wnt; canonical Wnt/β-catenin signaling | (59) | ||
| Lrp6Cd allele | x | (68) | |||
| Map3k4 null | x | MAPK pathway | (68) | ||
| Mthfd1lz allele | Untested with folic acid; partial rescue observed upon sodium formate supplementation | (116) | |||
| Nog null | x | Bone morphogenetic protein antagonist; resistant to inositol and pifithrin-α (cell-death inhibitor) | (68) | ||
| SELH/Bc strain | x | Inbred mouse strain with a high frequency of nonsyndromic neural tube defects | (68) | ||
| Shmt null | x | Thymidylate biosynthesis pathway; choline-resistant | (12, 13) | ||
| Shroom3m1Nisw allele | x (short-term) | x (long-term) | Involved in actin remodeling, especially apical constriction and apicobasal elongation | (110) | |
| Slc19a1 null (RFC1) | x | Reduced folate carrier | (68) | ||
| Sp and Sp2H mutant at Pax3 gene | x | Transcription factor involved in ear, eye, and facial development as well as dorsal patterning of the neural tube | (68, 110) | ||
| Zic2m1Nisw allele | x | Transcriptional activator and repressor involved in organogenesis of the central nervous system | (110) | ||