AI-assisted phenotyping in a zebrafish hypophosphatasia model enables early and precise detection of skeletal alterations.

ABSTRACT: Hypophosphatasia (HPP) is a rare genetic disorder mainly affecting bone and tooth mineralization in patients due to ALPL gene mutations. Understanding genotype-phenotype correlations in HPP remains challenging due to different severities and the disease's heterogeneity. To address this, we established a novel zebrafish animal model (alpl^wue7), which mimics severe HPP disease forms. To bypass limitations in human-based phenotypic classification of skeletal alterations in this transgenic line, we developed and trained an artificial intelligence (AI) model capable of image-based classification with 68% accuracy-an improvement of 79% over manual classification. Our AI model could successfully identify early developmental alterations independent of altered image magnification, colora

SUBMITTER: Hark R 

PROVIDER: S-EPMC12443964 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature