Mouse Genome Informatics
hm
    Mthfd1ltm1b(EUCOMM)Wtsi/Mthfd1ltm1b(EUCOMM)Wtsi
involves: C57BL/6N * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• some embryos die prior to E9.5
• no viable embryos are seen after E12.5
• however, when dams are supplemented with 5000 mg/kg/d or 7500 mg/kg/d sodium formate viable embryos are found at later stages

embryogenesis
• maxillary processes of the first branchial arch appear globular and more widely separated than in somite matched controls
• 2 of 26 embryos fail to turn by E12.5
• display abnormally shaped lumens, including asymmetric dorsal-lateral bulges as well as a broader dorsal lumen
• 15 of 26 embryos display clear neural tube defects (exencephaly or craniorachischisis) at E11.5-12.5
• however, when dams are supplemented with 7500 mg/kg/d sodium formate 11 of 14 embryos display normal neural tube closure and only 3 embryos display exencephaly
• in some embryos at E11.5-12.5
• detected as early as E9.5
• seen in 20 of 24 embryos at E115.-12.5
• seen in all 9 (of 26) embryos with a closed neural tube and may also occur with exencephaly
• waviness generally begins at approximately the same axis as the forelimb and extends caudally past the forelimb
• embryos lag on average approximately 0.75 d behind control littermates
• supplementation with sodium formate partially rescues the growth defect

craniofacial
• appears immature and under grown at E12.5
• appears immature at E12.5
• maxillary processes of the first branchial arch appear globular and more widely separated than in somite matched controls
• maxillary processes of the first branchial arch appear globular and more widely separated than in somite matched controls
• all embryos with a closed neural tube have an aberrantly formed head

growth/size
• embryos lag on average approximately 0.75 d behind control littermates
• supplementation with sodium formate partially rescues the growth defect
• all embryos with a closed neural tube have an aberrantly formed head
• seen in all embryos with a closed neural tube

nervous system
• display abnormally shaped lumens, including asymmetric dorsal-lateral bulges as well as a broader dorsal lumen
• 15 of 26 embryos display clear neural tube defects (exencephaly or craniorachischisis) at E11.5-12.5
• however, when dams are supplemented with 7500 mg/kg/d sodium formate 11 of 14 embryos display normal neural tube closure and only 3 embryos display exencephaly
• in some embryos at E11.5-12.5
• detected as early as E9.5
• seen in 20 of 24 embryos at E115.-12.5
• seen in all 9 (of 26) embryos with a closed neural tube and may also occur with exencephaly
• waviness generally begins at approximately the same axis as the forelimb and extends caudally past the forelimb
• in some embryos at E11.5-12.5
• exencephaly may occur alone or with a wavy neural tube

Mouse Models of Human Disease
OMIM IDRef(s)
Neural Tube Defects 182940 J:193285