Phenotypes Associated with This Genotype

Genotype
MGI:3620649

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

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

mortality/aging

neonatal lethality, complete penetrance ( J:106035 )

♀ • females die at birth

embryo

embryo phenotype ( J:106035 )

♀N • nodal cells have cilia and left-right patterning appears normal

decreased embryo size ( J:106035 )

♀

cardiovascular system

abnormal blood vessel morphology ( J:106035 )

♀ • defects in the great vessels

nervous system

abnormal brain morphology ( J:106035 )

♀ • disorganized

♀ • however, at E9.5 the floor plate is present and at E10.5 development of interneurons and motorneurons appears normal unlike in hemizygous males

renal/urinary system

renal glomerulus cyst ( J:106035 )

♀ • all females have kidney cysts that appear to develop from the glomeruli

♀ • kidney cysts lack the cilia that are normally present in the glomeruli

abnormal renal glomerulus morphology ( J:106035 )

♀ • cystic, but not non-cystic, glomeruli lack cilia

craniofacial

decreased cranium height ( J:106035 )

♀

cleft palate ( J:106035 )

♀ • severe

limbs/digits/tail

polydactyly ( J:106035 )

♀ • 7 to 9 digits

syndactyly ( J:106035 )

♀

short limbs ( J:106035 )

♀

skeleton

decreased cranium height ( J:106035 )

♀

abnormal sternum morphology ( J:106035 )

♀ • not fused along the midline

abnormal rib morphology ( J:106035 )

♀ • rib shape, but not number or position, is abnormal

respiratory system

small lung ( J:106035 )

♀

growth/size/body

cleft palate ( J:106035 )

♀ • severe

decreased embryo size ( J:106035 )

♀

renal glomerulus cyst ( J:106035 )

♀ • all females have kidney cysts that appear to develop from the glomeruli

♀ • kidney cysts lack the cilia that are normally present in the glomeruli

digestive/alimentary system

cleft palate ( J:106035 )

♀ • severe

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