Phenotypes Associated with This Genotype

Genotype
MGI:3625849

• Allelic Composition: Gdf1^tm1Sjl/Gdf1^tm1Sjl; Nodal^tm1Rob/Nodal⁺
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:108723 )

• fewer than expected mutants at E13.5

embryo

abnormal first pharyngeal arch morphology ( J:108723 )

• defects are seen in structures arising from the first but not the second branchial arch

fused first pharyngeal arch ( J:108723 )

• at E9.0, the first branchial arch is fused, lacking a midline division

abnormal mesendoderm development ( J:108723 )

• primitive streak elongation is normal but significant reduction in the number of axial mesendoderm cells is detected in about 50% of mutants

abnormal neural fold formation ( J:108723 )

• fail to develop anterior neural folds

abnormal neural plate morphology ( J:108723 )

• anterior defects only

absent notochord ( J:108723 )

• absent at E8.5 in the most severely affected embryos

truncated notochord ( J:108723 )

• at E9.0 expression of Shh, a marker of the notochord at this stage, is anteriorly truncated

absent prechordal plate ( J:108723 )

• the prechordal plate marker Gsc is significantly downregulated at the late headfold stage and the prechordal plate is absent in severely affected embryos

craniofacial

absent mandible ( J:108723 )

• severely affected embryos lack jaws, as shown by the absence of mandibles in skeleton preparations

abnormal first pharyngeal arch morphology ( J:108723 )

• defects are seen in structures arising from the first but not the second branchial arch

fused first pharyngeal arch ( J:108723 )

• at E9.0, the first branchial arch is fused, lacking a midline division

cleft upper lip ( J:108723 )

• seen in 68% of embryos at E13.5, associated with holoprosencephaly

absent tongue ( J:108723 )

• severely affected embryos lack the entire tongue while mildly affected embryos lack the distal portion of the tongue

nasal septum hypoplasia ( J:108723 )

• hypomorphic nasal septum resulting in a fused nasal cavity

nervous system

abnormal neural plate morphology ( J:108723 )

• anterior defects only

holoprosencephaly ( J:108723 )

• seen in 68% of embryos at E13.5, associated with gross rostral truncation and cleft lip

abnormal diencephalon morphology ( J:108723 )

• thickening of the diencephalon seen in embryos with holoprosencephaly

abnormal third ventricle morphology ( J:108723 )

• a recessed third ventricle that fails to expand ventrally is seen in embryos with holoprosencephaly

digestive/alimentary system

absent tongue ( J:108723 )

• severely affected embryos lack the entire tongue while mildly affected embryos lack the distal portion of the tongue

abnormal foregut morphology ( J:108723 )

• at E9.0, in most embryos the foregut does not reach into the center of the first branchial arch unlike in wild-type mice

respiratory system

nasal septum hypoplasia ( J:108723 )

• hypomorphic nasal septum resulting in a fused nasal cavity

skeleton

absent mandible ( J:108723 )

• severely affected embryos lack jaws, as shown by the absence of mandibles in skeleton preparations

growth/size/body

absent mandible ( J:108723 )

• severely affected embryos lack jaws, as shown by the absence of mandibles in skeleton preparations

cleft upper lip ( J:108723 )

• seen in 68% of embryos at E13.5, associated with holoprosencephaly

absent tongue ( J:108723 )

• severely affected embryos lack the entire tongue while mildly affected embryos lack the distal portion of the tongue

nasal septum hypoplasia ( J:108723 )

• hypomorphic nasal septum resulting in a fused nasal cavity