Phenotype Image Detail

Image

Caption

Transformation of maxillary components in Ednra^tm6(Edn1)Hku/Ednra⁺ (Ednra^Edn1/+) mice. (A and B) Facial appearance of E18.5 wild-type (WT) (A) and Ednra^tm6(Edn1)Hku/Ednra⁺ mutant (B) mice. Vibrissae are absent in mutant mice that have open eyelids (arrows) and an anterior shift of the ear position (arrowheads). (C-L) Bone and cartilage elements of E18.5 wild-type (C, E, G, I, and K) and mutant (D, F, H, J, and L) skulls. (C and D) Lateral views of wild-type and mutant craniofacial skeletons. (E and F) The mutant shows mirror-image duplication of the mandibular elements (dentary, Meckelian cartilage (MC), and malleus) at the expense of the maxillary elements (maxilla, jugal, squamosal, and incus). (G and H) Caudal views of WT and mutant craniofacial skeletons. The dentaries are removed to show the normal and transformed maxillae. Large parts of the palatine, pterygoid, lamina obturans, and ala temporalis are missing or severely deformed in the mutant. (I and J) Ectotympanic and gonial bones are also duplicated in association with the ectopic MC in mutants. (K and L) Caudal views of the premaxilla-maxilla junction. The tip of the transformed maxilla-dentary in the mutant contains an ectopic incisor and fuses to the premaxilla. (M and N) Parasagittal sections of E18.5 WT (M) and mutant (N) mice stained by Mallory trichromic. The mutant shows an ectopic incisor in addition to the orphotopic 1. Fusion between the premaxilla and transformed maxilla-dentary is observed in the mutant. at, ala temporalis; bs, basisphenoid; dnt, dentary; etm, ectotympanic; fmx, frontal process of maxilla; gn, gonial; hy, hyoid; in, incus; jg, jugal; lo, lamina obturans; ma, malleus; mx, maxilla; pl, palatine; pmx, premaxilla; ps, presphenoid; ptg, pterygoid; sq, squamosal; tg, tongue; UI, upper incisor; vbf, vibrissae follicle; vm, vomer; *, ectopic structure.

Copyright

This image is from Sato T, Proc Natl Acad Sci U S A 2008 Dec 2;105(48):18806-11. Copyright 2008 National Academy of Sciences, U.S.A. J:224515

Associated Alleles

Symbol	Name
Ednra^tm6(Edn1)Hku	endothelin receptor type A; targeted mutation 6, Hiroki Kurihara

Associated Genotypes

Allelic Composition	Genetic Background
Ednra^tm6(Edn1)Hku/Ednra^+	involves: 129 * C57BL/6 * ICR