Avtor/Urednik		Perković, Tatjana; Duh, Darja; Peterlin, Borut; Gregorič, Jelka
Naslov		The Str mouse as a model for incontinentia pigmenti
Tip		članek
Vir		Pflugers Arch
Vol. in št.		Letnik 440, št. 5 Suppl
Leto izdaje		2000
Obseg		str. R53-4
Jezik		eng
Abstrakt		Striated mouse has been proposed as a model for incontinentia pigmenti (IP) based on the similarities in genetic predisposition and syntenic gene localisation in mouse. IP is considered an ectodermal dysplasia with all four charactarestic structures involved: sweat glands, hair, teeth and nails. Recently mutations have burn found in the Nsdhl, encoding an NAD(P)H steroid dehydrogenase-like protein in Str and Bpa mice. We analysed the phenotype of the Str mouse to evaluate the involvement of ectodermally derived tissues. Our results demonstrated that in Str mouse in addition to abnormal coat texture, sweat glands were severely dystrophic or missing. Retinal degeneration and skeletal abnormalities were also found. Wu conclude that Str mouse is a good model to get new insights in the pathogenesis of ectodermal dysplasias and X linked malt lethality in humans.
Deskriptorji		INCONTINENTIA PIGMENTI DISEASE MODELS, ANIMAL ECTODERMAL DYSPLASIA MICE PHENOTYPE