All Phenotypes Ofd1<tm2.1Bfra> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Ofd1^tm2.1Bfra
targeted mutation 2.1, Brunella Franco
MGI:4882077

Summary

5 genotypes

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/Y Tg(CAG-cre)1Nagy/0	involves: 129S2/SvPas	MGI:3620650
cn3	Ofd1^tm2.1Bfra/Y Tg(Msx2-cre)5Rem/0	involves: 129S2/SvPas	MGI:4882104
cn4	Ofd1^tm2.1Bfra/Y Tg(Prrx1-cre)1Cjt/0	involves: 129S2/SvPas * C57BL/6J * SJL/J	MGI:4882101
cn5	Ofd1^tm2.1Bfra/Ofd1⁺ Tg(Prrx1-cre)1Cjt/0	involves: 129S2/SvPas * C57BL/6J * SJL/J	MGI:4882102

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ofd1^tm2.1Bfra mutation (0 available); any Ofd1 mutation (14 available)
Tg(CAG-cre)1Nagy mutation (1 available)

♀	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/Y Tg(CAG-cre)1Nagy/0
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ofd1^tm2.1Bfra mutation (0 available); any Ofd1 mutation (14 available)
Tg(CAG-cre)1Nagy mutation (1 available)

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:106035 )

• the expected number of males are present at E11.5 but the frequency decreases to only 4% by E12.5

embryo

incomplete embryo turning ( J:106035 )

• embryos do not turn

abnormal left-right axis patterning ( J:106035 )

• bilateral expression of normally asymmetric genes (Nodal, Pitx2) is seen

decreased embryo size ( J:106035 )

absent floor plate ( J:106035 )

cardiovascular system

abnormal direction of heart looping ( J:106035 )

• in about 50% the heart tube remains at the midline, in the rest either normal or reversed heart looping is seen

abnormal heart tube morphology ( J:106035 )

• about 50% have a thin, abnormal cardiac tube that remains at the midline

distended pericardium ( J:106035 )

nervous system

abnormal neuron differentiation ( J:106035 )

• at E10.5 no prospective V3 interneurons or motorneurons are detected

absent floor plate ( J:106035 )

growth/size/body

decreased embryo size ( J:106035 )

cellular

abnormal neuron differentiation ( J:106035 )

• at E10.5 no prospective V3 interneurons or motorneurons are detected

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/Y Tg(Msx2-cre)5Rem/0
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ofd1^tm2.1Bfra mutation (0 available); any Ofd1 mutation (14 available)
Tg(Msx2-cre)5Rem mutation (2 available)

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

limbs/digits/tail

limbs/digits/tail phenotype ( J:168038 )

N	• mice exhibit normal limbs

Allelic Composition	Ofd1^tm2.1Bfra/Y 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 (14 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)

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

mortality/aging

postnatal lethality ( J:168038 )

• after P17, mice are so severely malformed that they are sacrificed

limbs/digits/tail

abnormal limb mesenchyme morphology ( J:168038 )

• cilia on limb mesenchyme are shorted than in wild-type mice

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

• however, length of cilia on the apical ectodermal ridge and ventral ectoderm is normal

polydactyly ( J:168038 )

• severe with 7 to 9 unpatterned digits on each forelimb and a single extra digit on each hindlimb

syndactyly ( J:168038 )

• in 2 of 8 mice

abnormal humerus morphology ( J:168038 )

• at E16.5, the bone collar of the humerus is almost absent unlike 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 )

embryo

abnormal limb mesenchyme morphology ( J:168038 )

• cilia on limb mesenchyme are shorted than in wild-type mice

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

• however, length of cilia on the apical ectodermal ridge and ventral ectoderm is normal

skeleton

abnormal humerus morphology ( J:168038 )

• at E16.5, the bone collar of the humerus is almost absent unlike in wild-type mice

abnormal long bone diaphysis morphology ( J:168038 )

• at P0, the central ossified diaphysis is reduced compared to in wild-type mice

abnormal long bone epiphyseal plate morphology ( J:168038 )

• slightly disorganized

decreased long bone epiphyseal plate size ( J:168038 )

decreased length of long bones ( J:168038 )

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 bone mineralization ( J:168038 )

• reduced in the limbs at E16.5

abnormal chondrocyte physiology ( J:168038 )

• at E16.5, chondrocyte proliferation in the proximal ulna is decreased compared to in wild-type mice

• hypertrophic chondrocytes exhibit premature differentiation compared to in wild-type mice

• however, levels of chondrocyte apoptosis are normal

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 (14 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 )

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