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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 (41 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

growth/size/body
• midfacial hypoplasia
• 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
• P0 heterozygotes exhibit dome-shaped heads
• brachycephalic-shaped skull
• mutants exhibit reduced growth with age

craniofacial
• midfacial hypoplasia
• 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
• P0 heterozygotes exhibit dome-shaped heads
• brachycephalic-shaped skull

embryo
• protruding and enlarged umbilical stump

integument
• skin of E16.5, P0 and P5 mutants shows typical furrowing and thickening similar to cutis gyrata and acanthosis, and papillomatosis
• 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
• 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
• basal layer of the epidermis shows an increase in cell proliferation
• hyperplastic cells in the cornified layer
• at E16.5, P0 and P5

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

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


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
08/17/2016
MGI 6.05
The Jackson Laboratory