Phenotypes associated with this allele

• Allele Symbol: Fgfr1^tm2.1Cxd
• Allele Name: targeted mutation 2.1, Chu-Xia Deng
• Allele ID: MGI:2153355
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgfr1^tm2.1Cxd/Fgfr1^tm2.1Cxd	involves: 129S6/SvEvTac * FVB/N	MGI:2181553
ht2	Fgfr1^tm2.1Cxd/Fgfr1^+	B6J.129S6(Cg)-Fgfr1^tm2.1Cxd	MGI:5790249
ht3	Fgfr1^tm2.1Cxd/Fgfr1^+	D2.129S6(Cg)-Fgfr1^tm2.1Cxd	MGI:5790247
ht4	Fgfr1^tm2.1Cxd/Fgfr1^+	involves: 129S6/SvEvTac * FVB/N	MGI:2181554

Genotype
MGI:2181553

hm1

• Allelic Composition: Fgfr1^tm2.1Cxd/Fgfr1^tm2.1Cxd
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

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

craniofacial

abnormal craniofacial bone morphology ( J:63959 )

• mice exhibit similar craniofacial defects observed in heterozygotes with increased severity

craniofacial asymmetry ( J:63959 )

growth/size/body

decreased body size ( J:63959 )

limbs/digits/tail

short tail ( J:63959 )

skeleton

abnormal craniofacial bone morphology ( J:63959 )

• mice exhibit similar craniofacial defects observed in heterozygotes with increased severity

premature cranial suture closure ( J:63959 )

vision/eye

ocular hypertelorism ( J:63959 )

Genotype
MGI:5790249

ht2

• Allelic Composition: Fgfr1^tm2.1Cxd/Fgfr1⁺
• Genetic Background: B6J.129S6(Cg)-Fgfr1^tm2.1Cxd

craniofacial

abnormal viscerocranium morphology ( J:228708 )

• mice show points of attachment of the premaxillary bones to the ipsilateral maxillary and frontal bones at P0 compared to complete disarticulation of these bones in controls

abnormal maxillary-premaxillary suture morphology ( J:228708 )

• P0 skulls show a smoothened appearance of the osteogenic fronts of the premaxillary suture compared to the interdigitated appearance of controls

abnormal palatine bone morphology ( J:228708 )

• the horizontal processes of the palatine bones have a mild dysplasia at the posterior borders in their transition into the vertical plane, however the vertical processes are normal

skeleton

abnormal viscerocranium morphology ( J:228708 )

• mice show points of attachment of the premaxillary bones to the ipsilateral maxillary and frontal bones at P0 compared to complete disarticulation of these bones in controls

abnormal maxillary-premaxillary suture morphology ( J:228708 )

• P0 skulls show a smoothened appearance of the osteogenic fronts of the premaxillary suture compared to the interdigitated appearance of controls

abnormal palatine bone morphology ( J:228708 )

• the horizontal processes of the palatine bones have a mild dysplasia at the posterior borders in their transition into the vertical plane, however the vertical processes are normal

growth/size/body

abnormal viscerocranium morphology ( J:228708 )

• mice show points of attachment of the premaxillary bones to the ipsilateral maxillary and frontal bones at P0 compared to complete disarticulation of these bones in controls

abnormal maxillary-premaxillary suture morphology ( J:228708 )

• P0 skulls show a smoothened appearance of the osteogenic fronts of the premaxillary suture compared to the interdigitated appearance of controls

abnormal palatine bone morphology ( J:228708 )

• the horizontal processes of the palatine bones have a mild dysplasia at the posterior borders in their transition into the vertical plane, however the vertical processes are normal

Genotype
MGI:5790247

ht3

• Allelic Composition: Fgfr1^tm2.1Cxd/Fgfr1⁺
• Genetic Background: D2.129S6(Cg)-Fgfr1^tm2.1Cxd

craniofacial

abnormal basisphenoid bone morphology ( J:228708 )

• premature fusion of the palatine-basisphenoid bones

abnormal viscerocranium morphology ( J:228708 )

• mice show points of attachment of the premaxillary bones to the ipsilateral maxillary and frontal bones at P0 compared to complete disarticulation of these bones in controls

• mice show a lack of dissociation of the supero-lateral junctions of the vertical processes of the paired palatine bones with the basisphenoid bone

abnormal maxillary-premaxillary suture morphology ( J:228708 )

• P0 skulls show a smoothened appearance of the osteogenic fronts of the premaxillary suture compared to the interdigitated appearance of controls

• premaxillary sutures exhibit an absence of suture fusion at P0 but show fusion of the premaxillary-maxillary suture at P3

• mice show reduced width of the intrasutural mesenchyme between the maxillary and premaxillary bones in the sagittal plane

abnormal palatine bone morphology ( J:228708 )

• severe palatine bone dysplasia involving the vertical bony processes, with this process curving anteriorly instead of posteriorly

• premature fusion of the palatine-basisphenoid bones

midface hypoplasia ( J:228708 )

• mice develop midface hypoplasia from P3 onward

growth/size/body

abnormal viscerocranium morphology ( J:228708 )

• mice show points of attachment of the premaxillary bones to the ipsilateral maxillary and frontal bones at P0 compared to complete disarticulation of these bones in controls

• mice show a lack of dissociation of the supero-lateral junctions of the vertical processes of the paired palatine bones with the basisphenoid bone

abnormal maxillary-premaxillary suture morphology ( J:228708 )

• P0 skulls show a smoothened appearance of the osteogenic fronts of the premaxillary suture compared to the interdigitated appearance of controls

• premaxillary sutures exhibit an absence of suture fusion at P0 but show fusion of the premaxillary-maxillary suture at P3

• mice show reduced width of the intrasutural mesenchyme between the maxillary and premaxillary bones in the sagittal plane

abnormal palatine bone morphology ( J:228708 )

• severe palatine bone dysplasia involving the vertical bony processes, with this process curving anteriorly instead of posteriorly

• premature fusion of the palatine-basisphenoid bones

midface hypoplasia ( J:228708 )

• mice develop midface hypoplasia from P3 onward

skeleton

abnormal basisphenoid bone morphology ( J:228708 )

• premature fusion of the palatine-basisphenoid bones

abnormal viscerocranium morphology ( J:228708 )

• mice show points of attachment of the premaxillary bones to the ipsilateral maxillary and frontal bones at P0 compared to complete disarticulation of these bones in controls

• mice show a lack of dissociation of the supero-lateral junctions of the vertical processes of the paired palatine bones with the basisphenoid bone

abnormal maxillary-premaxillary suture morphology ( J:228708 )

• P0 skulls show a smoothened appearance of the osteogenic fronts of the premaxillary suture compared to the interdigitated appearance of controls

• premaxillary sutures exhibit an absence of suture fusion at P0 but show fusion of the premaxillary-maxillary suture at P3

• mice show reduced width of the intrasutural mesenchyme between the maxillary and premaxillary bones in the sagittal plane

abnormal palatine bone morphology ( J:228708 )

• severe palatine bone dysplasia involving the vertical bony processes, with this process curving anteriorly instead of posteriorly

• premature fusion of the palatine-basisphenoid bones

premature maxillary-premaxillary suture closure ( J:228708 )

• mice show fusion of the premaxillary-maxillary suture at P3

• however, the maxillary-palatine and nasal-frontal midfacial sutures do not show premature fusion at P3

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pfeiffer syndrome		DOID:14705	OMIM:101600	J:228708

Genotype
MGI:2181554

ht4

• Allelic Composition: Fgfr1^tm2.1Cxd/Fgfr1⁺
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

cellular

increased osteoblast proliferation ( J:63959 )

• osteoblast proliferation is increased compared to in wild-type mice

craniofacial

abnormal craniofacial bone morphology ( J:63959 )

• although normal at birth, mice develop craniofacial abnormalities beginning at P3

long incisors ( J:63959 )

facial asymmetry ( J:63959 )

• mice exhibit facial asymmetry with anterio-posterior shortening, lateral widening and vertical heightening compared with wild-type mice

midface hypoplasia ( J:63959 )

• mice exhibit midface hypoplasia compared with wild-type mice

skeleton

increased osteoblast proliferation ( J:63959 )

• osteoblast proliferation is increased compared to in wild-type mice

abnormal craniofacial bone morphology ( J:63959 )

• although normal at birth, mice develop craniofacial abnormalities beginning at P3

long incisors ( J:63959 )

increased osteoblast cell number ( J:63959 )

• due to increased osteoblast proliferation

premature cranial suture closure ( J:63959 )

• at P16 to P21, mice exhibit premature fusion of the frontal, saggital, and coronal sutures unlike in wild-type mice

• lamboid and occipitointerparietal sutures appear normal

• no cranial base abnormality is observed at P20

premature coronal suture closure ( J:63959 )

• at P16 to P21, mice exhibit premature fusion of the coronal sutures unlike in wild-type mice

premature metopic suture closure ( J:63959 )

• at P16 to P21, mice exhibit premature fusion of the anterior frontal and posterior frontal sutures unlike in wild-type mice

premature sagittal suture closure ( J:63959 )

• at P16 to P21, mice exhibit premature fusion of the saggital sutures unlike in wild-type mice

vision/eye

ocular hypertelorism ( J:63959 )

• in 12 of 20 mice

growth/size/body

long incisors ( J:63959 )

facial asymmetry ( J:63959 )

• mice exhibit facial asymmetry with anterio-posterior shortening, lateral widening and vertical heightening compared with wild-type mice

midface hypoplasia ( J:63959 )

• mice exhibit midface hypoplasia compared with wild-type mice