Phenotypes Associated with This Genotype

Genotype
MGI:4819097

• Allelic Composition: Chrd^tm1Emdr/Chrd^tm1Emdr; Nodal^tm1Rob/Nodal⁺
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

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

nervous system

holoprosencephaly ( J:161524 )

• in 14 of 19 mice with defects in anterior midline tissues

embryo

abnormal mesendoderm development ( J:161524 )

• expression analysis indicates defects in patterning and function in the anterior most axial mesendoderm

abnormal embryonic tissue morphology ( J:161524 )

• 23% (19 of 83) show defects in anterior midline tissues

• 14 of these 19 show holoprosencephaly in association with anterior body truncation and fused first pharyngeal arches

fused first pharyngeal arch ( J:161524 )

• fused in 14 of 19 mice with defects in anterior midline tissues

abnormal anterior definitive endoderm morphology ( J:161524 )

• expression analysis indicates impairment in ADE specification

abnormal prechordal plate morphology ( J:161524 )

• expression analysis indicates defects in patterning and function

cardiovascular system

abnormal direction of heart looping ( J:161524 )

• cardiac laterality defects are seen in 5 mice

craniofacial

fused first pharyngeal arch ( J:161524 )

• fused in 14 of 19 mice with defects in anterior midline tissues

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly		DOID:4621	OMIM:PS236100	J:161524