Skinbase
Mouse Skin and Hair Database
Repeated Epilation (Er) Chr4
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The repeated epilation (Er) is an autosomal dominant mutation mapped to Chromosome 4 that was first reported in 1960. It was probably radiation induced. Several congenic lines were created from the original outbred stock.
Heterozygous mice are indistinguishable from wildtype siblings until around 2 weeks of age, when they begin to lose hair in patches. These mice grow more slowly and some die. The embryonic hair cycle normally ends around two weeks of age but it is extended about one week in Er/+ mice. Hair is lost from head to tail. Unlike their littermate controls, Er/+ mice develop papillomas and squamous cell carcinomas beyond the age of 6 months. Homozygous (Er/Er) embryos can be recognized in utero at 1.35 days post conception (dpc) when they develop abnormalities of the skin, tail, and limbs. Stumpy legs and tails are evident at 18.5 dpc. Facial dysmorphism is also observed. Homozygous mice born die soon after because they can not breathe due to a closed oral cavity.
Foot plates are shortened with no digital separation. Nails are absent or poorly developed. The tail is bent and short. Homozygous mice develop local thickenings in the skin as early as 13.5 dpc. By 14.5 dpc the flank epidermis is about twice normal thickness while it remains thin on the dorsal head. Beginning around 17.5 dpc the skin wrinkles in +/+ or Er/+ mice but remains smooth in Er/Er mice. By 18.5 dpc the epidermis forms rete ridge like structures, which are not usually found in wildtype mice. The stratum corneum becomes markedly thickened. Hair follicles are scarce.
Heterozygous mice are indistinguishable from wildtype siblings until around 2 weeks of age, when they begin to lose hair in patches. These mice grow more slowly and some die. The embryonic hair cycle normally ends around two weeks of age but it is extended about one week in Er/+ mice. Hair is lost from head to tail. Unlike their littermate controls, Er/+ mice develop papillomas and squamous cell carcinomas beyond the age of 6 months. Homozygous (Er/Er) embryos can be recognized in utero at 1.35 days post conception (dpc) when they develop abnormalities of the skin, tail, and limbs. Stumpy legs and tails are evident at 18.5 dpc. Facial dysmorphism is also observed. Homozygous mice born die soon after because they can not breathe due to a closed oral cavity.
Foot plates are shortened with no digital separation. Nails are absent or poorly developed. The tail is bent and short. Homozygous mice develop local thickenings in the skin as early as 13.5 dpc. By 14.5 dpc the flank epidermis is about twice normal thickness while it remains thin on the dorsal head. Beginning around 17.5 dpc the skin wrinkles in +/+ or Er/+ mice but remains smooth in Er/Er mice. By 18.5 dpc the epidermis forms rete ridge like structures, which are not usually found in wildtype mice. The stratum corneum becomes markedly thickened. Hair follicles are scarce.
References
Hunsicker, Repeated epilation, Er, Mouse News Lett 1960;23():58-9
Guenet JL, Linkage data - Repeated epilation (Er), Mouse News Lett 1977;56():57
Fox S; Reynolds S; Eicher EM, [Er - Gpd-1 linkage.], Mouse News Lett 1977;57():21
Eicher EM; Fox S, [Repeated epilation located on Chr 4.], Mouse News Lett 1978;58():50
Fox S; Eicher EM; Reynolds S, sr, Mouse News Lett 1978;58():50
Guenet JL; Salzgeber B; Tassin MT, Repeated epilation: a genetic epidermal syndrome in mice., J Hered 1979 Mar-Apr;70(2):90-4
Holbrook KA; Dale BA; Brown KS, Abnormal epidermal keratinization in the repeated epilation mutant mouse., J Cell Biol 1982 Feb;92(2):387-97
Tassin MT; Salzgeber B; Guenet JL, Studies on repeated epilation mouse mutant embryos: I. Development of facial malformations., J Craniofac Genet Dev Biol 1983;3(3):289-307
Jones AH; Lehman P; Dale BA, Altered retinoid distribution in the repeated epilation (Er) mutant mouse., J Craniofac Genet Dev Biol 1992 Apr-Jun;12(2):63-75
Dale BA; Jones AH; Presland R; Adler DA; Disteche CM, Chromosomal localization of the retinol binding protein gene and its elimination as a candidate gene for the repeated epilation (Er) mutation in mice., J Craniofac Genet Dev Biol 1992 Apr-Jun;12(2):76-81
Guenet, J-L; Salaun, J; Salzgeber, B; The Repeated Epilation (Er) Mutation, Chromosome 4, In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. Sundberg, JP (ed.), CRC Press, Boca Raton, FL, pp 399-405, 1994.
Fisher C, IKKalpha-/- mice share phenotype with pupoid fetus (pf/pf) and repeated epilation (Er/Er) mutant mice., Trends Genet 2000 Nov;16(11):482-4
