Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart

August 2003 in “ Development ”

Maria Sibilia, Bettina Wagner, Astrid Hoebertz, Candace E. Elliott, Silvia Marino, Wolfram Jochum, Erwin F. Wagner

epidermal growth factor receptor EGFR hypomorphic phenotypes skin defects hair defects Egfr-/- mutants neurodegeneration heart hypertrophy chondrocyte differentiation osteoblast differentiation hEGFRKI allele epithelial cells bone cells

TLDR Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.

Mice humanised for the epidermal growth factor receptor (EGFR) displayed hypomorphic phenotypes, including growth retardation and skin and hair defects similar to Egfr-/- mutants, but with rescued neurodegeneration. These hEGFRKI/KI mice, viable up to six months, developed severe heart hypertrophy and semilunar valve abnormalities. They also showed accelerated chondrocyte and osteoblast differentiation, a novel phenotype not previously described. The severity of these phenotypes was linked to the expression levels of the hEGFRKI allele, which was inefficiently expressed in epithelial and bone cells but expressed at higher levels in the brain and heart, indicating tissue-specific effects and a new role for EGFR in bone development.

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Research cited in this study

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research Genetically Null Mice Reveal a Central Role for Epidermal Growth Factor Receptor in the Differentiation of the Hair Follicle and Normal Hair Development

107 citations , June 1997 in “PubMed”

EGFR is essential for normal hair development and follicle differentiation.

research Expression of a dominant negative mutant of epidermal growth factor receptor in the epidermis of transgenic mice elicits striking alterations in hair follicle development and skin structure.

252 citations , November 1995 in “The EMBO Journal”

research Mice With a Null Mutation of the TGFα Gene Have Abnormal Skin Architecture, Wavy Hair, and Curly Whiskers and Often Develop Corneal Inflammation

578 citations , April 1993 in “Cell”

TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.

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