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

involves: 129S2/SvPas
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• females die at birth (J:106035)

embryogenesis
N
• nodal cells have cilia and left-right patterning appears normal (J:106035)

cardiovascular system
• defects in the great vessels (J:106035)

nervous system
• disorganized (J:106035)
• however, at E9.5 the floor plate is present and at E10.5 development of interneurons and motorneurons appears normal unlike in hemizygous males (J:106035)

renal/urinary system
• cystic, but not non-cystic, glomeruli lack cilia (J:106035)
• all females have kidney cysts that appear to develop from the glomeruli (J:106035)
• kidney cysts lack the cilia that are normally present in the glomeruli (J:106035)

craniofacial
• severe (J:106035)

limbs/digits/tail
• 7 to 9 digits (J:106035)
(J:106035)
(J:106035)

skeleton
• not fused along the midline (J:106035)
• rib shape, but not number or position, is abnormal (J:106035)

respiratory system
(J:106035)

growth/size/body
• severe (J:106035)

digestive/alimentary system
• severe (J:106035)

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