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Phenotypes Associated with This Genotype
Genotype
MGI:3620649
Allelic
Composition
Ofd1tm1Bfra/Ofd1+
Tg(CAG-cre)1Nagy/0
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ofd1tm1Bfra mutation (0 available); any Ofd1 mutation (9 available)
Tg(CAG-cre)1Nagy mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

embryo
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 ID Ref(s)
Orofaciodigital Syndrome I; OFD1 311200 J:106035


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory