Phenotype Image Detail

Image

Caption

(A) Craniofacial defects. Dorsal view of the craniofacial skeleton of adult mice showing assymetric shortening of the nasal bones, curving unilaterally in Alkbh1^tm1Klng/Alkbh1^tm1Klng (Alkbh1^-/-) mice causing mal-developed teeth (n =4 mutant; n = 1 heterozygote). Ossified areas are shown in red and cartilage in blue. (B) Limb defects. Dorsal view of the autopod limb skeleton revealing reduced ossification in the phalanges (P) and the metatarsals (M) of the autopod of mutant newborns (n = 4/4 mutant). Ossified areas are shown in black and cartilage in blue. (C) Eye defects and neural tube defects (NTDs). Side view of embryos at E12.5. The mutant embryo has a bilateral microphthalmic eye phenotype in combination with a NTD. The NTD is originating from disrupted closure in the upper spinal region, and is associated with head and facial malformations leading to a shortented, broad snout. In addition, a severe intracranial hemorrhage is visible. (D) Lens defects. Histological analysis of paraffin-embedded eye sections from adult mice. In the mutant eyes the lens fiber cells have lost their ordered lamination pattern, and swollen and liquefied fibers as well as vacuoles are seen throughout the lens. Magnification: x10.

Copyright

This image is from Nordstrand LM, PLoS One 2010;5(11):e13827, and is displayed under the terms of the Creative Commons Attribution 4.0 International License. J:166841

Associated Alleles

Symbol	Name
Alkbh1^tm1Klng	alkB homolog 1, histone H2A dioxygenase; targeted mutation 1, Arne Klungland

Associated Genotypes

Allelic Composition	Genetic Background
Alkbh1^tm1Klng/Alkbh1^tm1Klng	involves: 129X1/SvJ * C57BL/6