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Peroxidasin is essential for eye development

ABSTRACT: Within a mutatgenesis screen, we identified the new recessive mouse mutant KTA48 with a kinky tail, white spots on coat and with small eyes. Aim of the actual study was the molecular characterization of the mutant and the functional consequences of the mutation. We mapped the mutation to mouse chromosome 12 within a critical interval of 2.4 Mb between the markers D12Mit171 and D12Mit270; sequence analysis of Pxdn revealed a T->A mutation at position 3816 (T3816A) resulting in a premature stop codon (Cys1272X) in teh perosidasin domain. Histological analysis revealed variable, but severe defects in teh eye including all major ocular tissues (cornea, lens and retina). These findings demonstrate severe clinical findings of a recessive mutation affecting peroxidasin. Total RNA obtained from homozygote embryos E12.5 and wildtype embryos E12.5, each sample include 4 eyes of two embryos

ORGANISM(S): Mus musculus

SUBMITTER: Marion Horsch

PROVIDER: E-GEOD-49704 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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