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Home Frizzy (fr), a Prss8 variant, generates defective skin and hair development in mice

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Frizzy (fr), a Prss8 variant, generates defective skin and hair development in mice

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Identifier	Thesis 2059
Author	Wu, Lillya Kaun-Lin
Title	Frizzy (fr), a Prss8 variant, generates defective skin and hair development in mice
Publisher	Central Connecticut State University
Date	2009
Resource Type	Master's Thesis
Notes	Frizzy (fr) is a spontaneous recessive mutation in mice characterized by curly vibrissae, a disheveled coat and short hair (Snell 1951). Previous linkage analysis located the mutant fr allele on Mus musculus Chromosome 7 (Falconer and Snell 1952). Our laboratory has identified fr as a mutant allele of Prss8, since the recessive fr allele and the recessive Prss8 knockout allele (Prss8ko) failed to complement, that is, mice that inherited one copy of fr from the mother and one copy of Prss8ko from the father did not develop normal hair (Spacek et al. 2010). This result is taken to suggest that fr is a defect in Prss8, since the parent transmitting fr did not transmit a normal copy of Prss8.To further confirm the result of the complementation experiment on a microscopic level, standard histological analysis was performed on frizzy Prss8fr/fr and Prss8ko/ko mice as well as heterozygous for Prss8fr/ko mice at three different time points, which represent various stages of hair development. In addition, this study compared the histology of these mice as well as two other genotypes, Prss8fr/+ and Prss8ko/+, to evaluate the spectrum of effects of the various combinations of Prss8 alleles on skin and hair development. The results showed that although all skin layers were present in mice of all genotypes, the structure and detailed organization of the skin were affected in groups with only mutant Prss8 alleles (Prss8fr and Prss8ko). While the Prss8fr/+ and Prss8ko/+ mice have the same normal skin and hair phenotype (served as control groups), the Prss8fr/fr, Prss8fr/ko, and Prss8ko/ko mice show collapsed stratum corneum layers, elongated rete ridges, and thickening of the stratum spinosum. The sebaceous glands were enlarged and the severity appeared to be correlated with the level of functional Prss8 predicted to be present. The hair follicles in these groups were similar to the controls at birth but their density decreased with age progression. The orientation of hair growth became less organized as age increased. These results suggest an impaired water-barrier function and ability to maintain skin and hair hydration in Prss8 deficient mice. The results demonstrated, for the first time, a possible role for Prss8 in sebaceous glands. I suggest that the loss of hair in frizzy mice might be due to a combined malfunction of the inner root sheath and sebum secretion.
Subject	Mice -- Genetics Mice -- Variation
Department	Department of Biomolecular Sciences
Advisor	Watson, Cheryl L King, Thomas R.
Type	Text
Digital Format	application/pdf
Language	eng
OCLC number	530027845
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Frizzy (fr), a Prss8 variant, generates defective skin and hair development in mice

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