TABLE I.
Folate Supplementation in Different Mouse Models of Birth Defects
| Response to supplementation |
|||||
|---|---|---|---|---|---|
| Model | Developmental defect | Mechanism/pathway | Folate | Other | References |
| FolR1 mutant | Multiple defects | ?? (Folate transport) | Responsive | Piedrahita et al. [1999]; Spiegelstein et al. [2004] | |
| Rfc1 mutant | Multiple defects | ?? (Folate transport) | Erythropoiesis responsive | Zhao et al. [2001] | |
| Some developmental defects unresponsive | |||||
| Splotch | Neural tube closure defects | Pax3 | Responsive | Responsive to thymidine | Fleming and Copp [1998] |
| Curly tail | Caudal mesodermal defects neural tube closure defects | ?? (Grhl3 hypomporph) | Unresponsive | Responsive to inositol | Greene and Copp [1997]; Cogram et al. [2004] |
| Grhl3 mutants | Spina bifida | Unknown | Unresponsive | Unresponsive to Inositol | Ting et al. [2003] |
| Cart1 mutants | Anencephaly | Unknown | Responsive | Zhao et al. [1996] | |
| Cited2 mutants | Exencephaly | Unknown | Responsive | Barbera et al. [2002] | |
| Isl1 transgenic | Caudal dysgenesis | ?? (Wnt3a ??) | Unresponsive | Unresponsive to Inositol | Muller et al. [2003]; Dinh, Salbaum, and Kappen, manuscript in preparation |
| Neural tube closure defects | ?? | ||||
| Hoxd4 transgenic | Delayed cartilage maturation | ?? (not folate pathway genes) | Cartilage maturation responsive | Kappen et al. [2004]; Kruger, Talmadge, and Kappen, manuscript in preparation | |
| Open eyes at birth | Mekk1 | Open eyes unresponsive | |||
| Activin | |||||
| FgfR2 | |||||
| EgfR | |||||
| Hoxb6 mutants | Homeotic transformations | ?? | Unresponsive | Kappen [2000]; Kappen, manuscript submitted | |
| Distal rib and sternal defects | ?? | Unresponsive | |||
| Proximal rib and articulation defects | ?? (Uncx4.1 ??) | Responsive | |||