Defects of renal tubular homeostasis and cystogenesis in the knockout.

Loss of -gene function causes autosomal recessive polycystic kidney disease (ARPKD) characterized by bilateral severely enlarged kidneys and congenital liver fibrosis requiring kidney replacement therapy most frequently during childhood. Studies using renal tissue from ARPKD patients suggest cyst promotion by suppressed hippo activity and enhanced Src/STAT3-signaling. We address renal homeostasis in female -knockout mice, aged 3 to 9 months, and observe features in common with late-onset ARPKD.

Structural Analysis and Spatiotemporal Expression of Genes in Zebrafish Embryos and Larvae.

Zebrafish have come into focus to model cerebellar diseases such as spinocerebellar ataxias (SCAs), which is caused by an expansion of translated CAG repeats in several unrelated genes. In spinocerebellar ataxia type 1 (SCA1), gain-of-function in the mutant ATXN1 contributes to SCA1's neuropathy. Human ATXN1 and its paralog ATXN1L are chromatin-binding factors, act as transcriptional repressors, and have similar expression patterns.