title: Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71rco12 and Krt71rco13.
abstract: We have analyzed two novel mouse mutant strains, Rco12 and Rco13, displaying a wavy pelage and curly vibrissae that have been identified in an ENU screen for dominant mutations affecting the pelage. The mutations were mapped to mouse Chromosome 15 and identified as missense point mutations in the first exon of the Krt71 (formerly called Krt2-6g) gene causing alterations of amino acid residue 143 from alanine to glycine (Rco12) and residue 146 from isoleucine to phenylalanine. The morphologic analyses demonstrated that both mutations cause identical phenotypes leading to the formation of filamentous aggregates in Henle's and Huxley's layers of the inner root sheath (IRS) of the hair follicle that leads to the bending of the hair shaft. Both novel mutations are located in the immediate vicinity of previously identified mutations in murine Krt71 that cause similar phenotypes and alter the helix initiation motif of the keratin. The characterization of these mutants demonstrates the importance of this Krt71 domain for the formation of linear IRS intermediate filaments.
authors.affiliation: Anatomisches Institut, Rheinische Friedrich-Wilhelms-Universität Bonn, Nussallee 10, D-53115 Bonn, Germany.
authors.forename: Fabian
authors.initials: F
authors.lastname: Runkel
authors.forename: Matthias
authors.initials: M
authors.lastname: Klaften
authors.forename: Kerstin
authors.initials: K
authors.lastname: Koch
authors.forename: Volker
authors.initials: V
authors.lastname: Böhnert
authors.forename: Heinrich
authors.initials: H
authors.lastname: Büssow
authors.forename: Helmut
authors.initials: H
authors.lastname: Fuchs
authors.forename: Thomas
authors.initials: T
authors.lastname: Franz
authors.forename: Martin
authors.initials: M
authors.lastname: Hrabé de Angelis
mesh_terms: D000477:Alkylating Agents / Q000633:toxicity; D000818:Animals; D002874:Chromosome Mapping; D033481:Chromosomes, Mammalian; D005038:Ethylnitrosourea / Q000633:toxicity; D005260:Female; D018859:Hair Follicle / Q000002:abnormalities* / Q000187:drug effects / Q000473:pathology; D053553:Keratin-6 / Q000235:genetics / Q000502:physiology*; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation
chemical_list: D000477:Alkylating Agents; D053553:Keratin-6; C507568:Krt71 protein, mouse; D005038:Ethylnitrosourea