Transcriptomics

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Single-cell transcriptional analysis of lens placode development in Mab21l1 knockout mice


ABSTRACT: In mouse early organogenic stages, a Mab21l1-null mutation causes severe defects in invagination of the lens placode toward optic cup due to its severe defects in both cell proliferation and survival, which subsequently results in severe microphthalmia after birth. In human, loss of function variants in MAB21L1 have recently been described in Cerebello-Oculo-Facio-Genital syndrome (COFG syndrome). The close similarity between mouse and human phenotypes including microphthalmia indicates the importance of Mab21l1 function in human lens placode. To approach the molecular function of MAB21L1 in eye morphogenesis, we examined single cell transcriptomes in lens placode and its surrounding surface ectoderm at 26 somite stage (E9.25), just prior to the onset of lens defects in Mab21l1-null embryos. Here we demonstrate the identification of several key genes immediately downstream of Mab21l1 function, together with the early lens placode-/surface ectoderm-specific single cell transcriptomes during murine lens placode specification.

ORGANISM(S): Mus musculus

PROVIDER: GSE167126 | GEO | 2021/11/30

REPOSITORIES: GEO

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