All Phenotypes Ofd1<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ofd1^tm2.1Bfra/Ofd1⁺ Tg(CAG-cre)1Nagy/0	involves: 129S2/SvPas	MGI:3620649
cn2	Ofd1^tm2.1Bfra/Ofd1⁺ Tg(Prrx1-cre)1Cjt/0	involves: 129S2/SvPas * C57BL/6J * SJL/J	MGI:4882102

♀	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

Allelic Composition	Ofd1^tm2.1Bfra/Ofd1⁺ Tg(Prrx1-cre)1Cjt/0
Genetic Background	involves: 129S2/SvPas * C57BL/6J * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ofd1^tm2.1Bfra mutation (0 available); any Ofd1 mutation (11 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)

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

limbs/digits/tail

preaxial polydactyly ( J:168038 )

• in the first digit in each forelimb but not hindlimb

abnormal humerus morphology ( J:168038 )

• at E16.5, the bone collar of the humerus is slightly reduced compared to in wild-type mice

short humerus ( J:168038 )

short radius ( J:168038 )

short ulna ( J:168038 )

short femur ( J:168038 )

short fibula ( J:168038 )

short tibia ( J:168038 )

abnormal limb development ( J:168038 )

• axoneme doublets are missing in the limb mesenchyme cilia unlike in wild-type mice

abnormal limb mesenchyme morphology ( J:168038 )

• axoneme doublets are missing in the limb mesenchyme cilia unlike in wild-type mice

embryo

abnormal limb mesenchyme morphology ( J:168038 )

• axoneme doublets are missing in the limb mesenchyme cilia unlike in wild-type mice

skeleton

abnormal humerus morphology ( J:168038 )

• at E16.5, the bone collar of the humerus is slightly reduced compared to in wild-type mice

short humerus ( J:168038 )

short radius ( J:168038 )

short ulna ( J:168038 )

short femur ( J:168038 )

short fibula ( J:168038 )

short tibia ( J:168038 )

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 03/24/2026 MGI 6.24