| Primary Identifier | MGI:1924836 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 270685 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP binding activity; formate-tetrahydrofolate ligase activity; and protein homodimerization activity. Involved in embryonic neurocranium morphogenesis; embryonic viscerocranium morphogenesis; and neural tube closure. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; embryo ectoderm; genitourinary system; and sensory organ. Used to study neural tube defect. Human ortholog(s) of this gene implicated in neural tube defect. Orthologous to human MTHFD1L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like). PHENOTYPE: Homozygous deletion of this gene causes embryonic lethality, delayed embryonic growth, craniofacial anomalies, and neural tube defects including craniorachischisis, exencephaly and/or a wavy neural tube. Maternal formate supplementation reduces the incidence of NTDs and improves embryonic growth. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
