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The Str mouse as a model for incontinentia pigmenti.

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 characteristic structures involved: sweat glands, hair, teeth and nails. Recently mutations have been 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. We conclude that Str mouse is a good model to get new insights in the pathogenesis of ectodermal dysplasias and X linked male lethality in humans.[1]

References

  1. The Str mouse as a model for incontinentia pigmenti. Perkovic, T., Duh, D., Peterlin, B., Gregoric, J. Pflugers Arch. (2000) [Pubmed]
 
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