Phenotypes Associated with This Genotype

Genotype
MGI:5470154

• Allelic Composition: Mthfd1l^{tm1b(EUCOMM)Wtsi}/Mthfd1l^{tm1b(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N * FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality ( J:193285 )

• some embryos die prior to E9.5

embryonic lethality during organogenesis, complete penetrance ( J:193285 )

• 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

embryo

abnormal first pharyngeal arch morphology ( J:193285 )

• maxillary processes of the first branchial arch appear globular and more widely separated than in somite matched controls

abnormal embryo turning ( J:193285 )

• 2 of 26 embryos fail to turn by E12.5

embryonic growth retardation ( J:193285 )

• embryos lag on average approximately 0.75 d behind control littermates

• supplementation with sodium formate partially rescues the growth defect

decreased embryo size ( J:193285 )

• at E11.5

abnormal neural tube morphology ( J:193285 )

• display abnormally shaped lumens, including asymmetric dorsal-lateral bulges as well as a broader dorsal lumen

open neural tube ( J:193285 )

• 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

craniorachischisis ( J:193285 )

• in some embryos at E11.5-12.5

wavy neural tube ( J:193285 )

• 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

craniofacial

abnormal mandibular prominence morphology ( J:193285 )

• appears immature and under grown at E12.5

abnormal maxillary prominence morphology ( J:193285 )

• appears immature at E12.5

• maxillary processes of the first branchial arch appear globular and more widely separated than in somite matched controls

abnormal first pharyngeal arch morphology ( J:193285 )

• maxillary processes of the first branchial arch appear globular and more widely separated than in somite matched controls

abnormal head shape ( J:193285 )

• all embryos with a closed neural tube have an aberrantly formed head

growth/size/body

embryonic growth retardation ( J:193285 )

• embryos lag on average approximately 0.75 d behind control littermates

• supplementation with sodium formate partially rescues the growth defect

decreased embryo size ( J:193285 )

• at E11.5

abnormal head morphology ( J:193285 )

abnormal head shape ( J:193285 )

• all embryos with a closed neural tube have an aberrantly formed head

microcephaly ( J:193285 )

• seen in all embryos with a closed neural tube

nervous system

abnormal neural tube morphology ( J:193285 )

• display abnormally shaped lumens, including asymmetric dorsal-lateral bulges as well as a broader dorsal lumen

open neural tube ( J:193285 )

• 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

craniorachischisis ( J:193285 )

• in some embryos at E11.5-12.5

wavy neural tube ( J:193285 )

• 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

exencephaly ( J:193285 )

• in some embryos at E11.5-12.5

• exencephaly may occur alone or with a wavy neural tube

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neural tube defect		DOID:0080074	OMIM:301410 OMIM:601634	J:193285