Phenotypes Associated with This Genotype

Genotype
MGI:3620650

• Allelic Composition: Ofd1^tm2.1Bfra/Y; Tg(CAG-cre)1Nagy/0
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:106035 )

♂ • the expected number of males are present at E11.5 but the frequency decreases to only 4% by E12.5

embryo

incomplete embryo turning ( J:106035 )

♂ • embryos do not turn

abnormal left-right axis patterning ( J:106035 )

♂ • bilateral expression of normally asymmetric genes (Nodal, Pitx2) is seen

decreased embryo size ( J:106035 )

♂

absent floor plate ( J:106035 )

♂

cardiovascular system

abnormal direction of heart looping ( J:106035 )

♂ • in about 50% the heart tube remains at the midline, in the rest either normal or reversed heart looping is seen

abnormal heart tube morphology ( J:106035 )

♂ • about 50% have a thin, abnormal cardiac tube that remains at the midline

distended pericardium ( J:106035 )

♂

nervous system

abnormal neuron differentiation ( J:106035 )

♂ • at E10.5 no prospective V3 interneurons or motorneurons are detected

absent floor plate ( J:106035 )

♂

growth/size/body

decreased embryo size ( J:106035 )

♂

cellular

abnormal neuron differentiation ( J:106035 )

♂ • at E10.5 no prospective V3 interneurons or motorneurons are detected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
orofaciodigital syndrome I		DOID:0060316	OMIM:311200	J:106035