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Phenotypes Associated with This Genotype
Genotype
MGI:5450965
Allelic
Composition
Fgfr2tm3Ewj/Fgfr2+
Genetic
Background
B6.129-Fgfr2tm3Ewj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm3Ewj mutation (0 available); any Fgfr2 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Fgfr2tm3Ewj/Fgfr2+ mice have cutis gyrata, acanthosis, skull synostosis, and other abnormalities

mortality/aging
• almost half of the mutants die within 24-36 hours after birth and most die within 2 weeks of age (J:190491)
• almost half of the mutants die within 24-36 hours after birth and most die within 2 weeks of age (J:190491)

growth/size/body
• midfacial hypoplasia (J:190491)
• treatment with SB203580, a p38 kinase inhibitor, reduces epidermal and skull abnormalities but does not improve the survival of mutants, however, treatment with MEK/ERK inhibitor U0126 has no effect (J:190491)
• midfacial hypoplasia (J:190491)
• treatment with SB203580, a p38 kinase inhibitor, reduces epidermal and skull abnormalities but does not improve the survival of mutants, however, treatment with MEK/ERK inhibitor U0126 has no effect (J:190491)
• P0 heterozygotes exhibit dome-shaped heads (J:190491)
• P0 heterozygotes exhibit dome-shaped heads (J:190491)
• brachycephalic-shaped skull (J:190491)
• brachycephalic-shaped skull (J:190491)
• mutants exhibit reduced growth with age (J:190491)
• mutants exhibit reduced growth with age (J:190491)

craniofacial
• midfacial hypoplasia (J:190491)
• treatment with SB203580, a p38 kinase inhibitor, reduces epidermal and skull abnormalities but does not improve the survival of mutants, however, treatment with MEK/ERK inhibitor U0126 has no effect (J:190491)
• midfacial hypoplasia (J:190491)
• treatment with SB203580, a p38 kinase inhibitor, reduces epidermal and skull abnormalities but does not improve the survival of mutants, however, treatment with MEK/ERK inhibitor U0126 has no effect (J:190491)
• P0 heterozygotes exhibit dome-shaped heads (J:190491)
• P0 heterozygotes exhibit dome-shaped heads (J:190491)
• brachycephalic-shaped skull (J:190491)
• brachycephalic-shaped skull (J:190491)

embryogenesis
• protruding and enlarged umbilical stump (J:190491)
• protruding and enlarged umbilical stump (J:190491)

integument
• skin of E16.5, P0 and P5 mutants shows typical furrowing and thickening similar to cutis gyrata and acanthosis, and papillomatosis (J:190491)
• treatment with SB203580, a p38 kinase inhibitor, reduces epidermal and skull abnormalities but does not improve the survival of mutants, however, treatment with MEK/ERK inhibitor U0126 has no effect (J:190491)
• skin of E16.5, P0 and P5 mutants shows typical furrowing and thickening similar to cutis gyrata and acanthosis, and papillomatosis (J:190491)
• treatment with SB203580, a p38 kinase inhibitor, reduces epidermal and skull abnormalities but does not improve the survival of mutants, however, treatment with MEK/ERK inhibitor U0126 has no effect (J:190491)
• skin at E16.5, P0 and P5 shows papillomatosis and height measurements of the top and bottom of the troughs of the papillomatosis are higher in mutants than in wild-type mice (J:190491)
• skin at E16.5, P0 and P5 shows papillomatosis and height measurements of the top and bottom of the troughs of the papillomatosis are higher in mutants than in wild-type mice (J:190491)
• basal layer of the epidermis shows an increase in cell proliferation (J:190491)
• basal layer of the epidermis shows an increase in cell proliferation (J:190491)
• hyperplastic cells in the cornified layer (J:190491)
• hyperplastic cells in the cornified layer (J:190491)
• at E16.5, P0 and P5 (J:190491)
• at E16.5, P0 and P5 (J:190491)

skeleton
• fusion of bones of the sternum (J:190491)
• fusion of bones of the sternum (J:190491)
• the coronal suture exhibits synostosis and presynostosis at E17.5, showing deposition of osteoid between the osteogenic fronts (J:190491)
• the coronal suture exhibits synostosis and presynostosis at E17.5, showing deposition of osteoid between the osteogenic fronts (J:190491)
• premature fusion of coronal, zygomaxillary, and squamosal sutures (J:190491)
• marker analysis indicates an increase in osteogenic differentiation and abnormal bone growth at the coronal suture (J:190491)
• premature fusion of coronal, zygomaxillary, and squamosal sutures (J:190491)
• marker analysis indicates an increase in osteogenic differentiation and abnormal bone growth at the coronal suture (J:190491)

Mouse Models of Human Disease
OMIM ID Ref(s)
Beare-Stevenson Cutis Gyrata Syndrome; BSTVS 123790 J:190491


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory