TGFα deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice

NC Luetteke, TH Qiu, RL Peiffer, P Oliver, O Smithies… - Cell, 1993 - cell.com
NC Luetteke, TH Qiu, RL Peiffer, P Oliver, O Smithies, DC Lee
Cell, 1993cell.com
To explore the physiological roles of transforming growth factor a (TGFa), we disrupted the
mouse gene by homologous recombination in embryonic stem cells. Homoxygous mutant
mice were viable and fertile, but displayed pronounced waviness of the whiskers and fur,
accompanied by abnormal curvature, disorientation, and misalignment of the hair follicles.
Homozygous and, to a lesser extent, heteroxygous mice displayed eye abnormalities of
variable incidence and severity, including open eyellds at birth, reduced eyeball size, and …
Summary
To explore the physiological roles of transforming growth factor a (TGFa), we disrupted the mouse gene by homologous recombination in embryonic stem cells. Homoxygous mutant mice were viable and fertile, but displayed pronounced waviness of the whiskers and fur, accompanied by abnormal curvature, disorientation, and misalignment of the hair follicles. Homozygous and, to a lesser extent, heteroxygous mice displayed eye abnormalities of variable incidence and severity, including open eyellds at birth, reduced eyeball size, and superficial opacity. Histological examination revealed eyelid and anterlor segment dysgene&s, comeal inflammation and scarring, and lens and retinal defects. Although TGFadeficiency affected skln and eyes, wound healing In these tissues was not impaired. Similar hair and eye defects have been previously associated with the recessive mutation waved-l (wa-7), and Northern analysis revealed reduced expression of TGFa in wa-7 mice. Crosses between wa-I homoxygotes and TGFa-targeted mice confirmed that wa-l and TGFa are allelic.
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