Mouse Genome Informatics
cx
    Ofd1tm1Bfra/Ofd1+
Tg(CAG-cre)1Nagy/0

involves: 129S2/SvPas
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• females die at birth

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

cardiovascular system
• defects in the great vessels

nervous system
• 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
• cystic, but not non-cystic, glomeruli lack cilia
• all females have kidney cysts that appear to develop from the glomeruli
• kidney cysts lack the cilia that are normally present in the glomeruli

craniofacial
• severe

limbs/digits/tail
• 7 to 9 digits

skeleton
• not fused along the midline
• rib shape, but not number or position, is abnormal

respiratory system

growth/size/body
• severe

digestive/alimentary system
• severe

Mouse Models of Human Disease
OMIM IDRef(s)
Orofaciodigital Syndrome I; OFD1 311200 J:106035