Phenotypes Associated with This Genotype

Genotype
MGI:5450965

• Allelic Composition: Fgfr2^tm3Ewj/Fgfr2⁺
• Genetic Background: B6.129-Fgfr2^tm3Ewj

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

Fgfr2^tm3Ewj/Fgfr2⁺ mice have cutis gyrata, acanthosis, skull synostosis, and other abnormalities

mortality/aging

postnatal lethality, complete penetrance ( J:190491 )

• almost half of the mutants die within 24-36 hours after birth and most die within 2 weeks of age

growth/size/body

midface hypoplasia ( J:190491 )

• 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

abnormal head shape ( J:190491 )

• P0 heterozygotes exhibit dome-shaped heads

shortened head ( J:190491 )

• brachycephalic-shaped skull

postnatal growth retardation ( J:190491 )

• mutants exhibit reduced growth with age

craniofacial

midface hypoplasia ( J:190491 )

• 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

abnormal head shape ( J:190491 )

• P0 heterozygotes exhibit dome-shaped heads

shortened head ( J:190491 )

• brachycephalic-shaped skull

embryo

abnormal umbilical cord morphology ( J:190491 )

• protruding and enlarged umbilical stump

integument

abnormal skin morphology ( J:190491 )

• 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

abnormal dermis papillary layer morphology ( 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

abnormal epidermis stratum basale morphology ( J:190491 )

• basal layer of the epidermis shows an increase in cell proliferation

abnormal epidermis stratum corneum morphology ( J:190491 )

• hyperplastic cells in the cornified layer

epidermis stratum granulosum hyperplasia ( J:190491 )

epidermis stratum spinosum hyperplasia ( J:190491 )

acanthosis ( J:190491 )

epidermal hyperplasia ( J:190491 )

thick epidermis ( J:190491 )

• at E16.5, P0 and P5

skeleton

abnormal sternum morphology ( J:190491 )

• fusion of bones of the sternum

premature cranial suture closure ( J:190491 )

• premature fusion of the coronal and squamosal sutures

premature coronal suture closure ( J:190491 )

• marker analysis indicates an increase in osteogenic differentiation and abnormal bone growth at the coronal suture

• the coronal suture exhibits synostosis and presynostosis at E17.5, showing deposition of osteoid between the osteogenic fronts

premature squamoparietal suture closure ( J:190491 )

• premature fusion of the squamosal sutures

premature zygomaticomaxillary suture closure ( J:190491 )

• premature fusion of the zygomaxillary sutures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Beare-Stevenson cutis gyrata syndrome		DOID:0050660	OMIM:123790	J:190491