Plcb4-flox Mouse

Plcb4, or phospholipase C β4, is a membrane-associated enzyme. It is a direct signaling effector of the endothelin receptor type A (EDNRA)-Gq/11 pathway, which is crucial for establishing the identity of neural crest cells (NCCs) that form lower jaw and middle ear structures [3]. It also has a role in lipid catabolism and is involved in several cellular behaviors like cell motility, growth, transformation and differentiation [2,4].

In mice, Plcb4+ Purkinje neurons exhibit robust gene-expression plasticity in response to sensorimotor and learning experiences, and play a crucial role in associative learning. Knockout of Fgfr2 in Plcb4+ Purkinje neurons using CRISPR disrupts motor learning, suggesting Plcb4's importance in motor learning [1]. In Auriculocondylar syndrome 2 (ARCND2), missense mutations in Plcb4 exert a dominant-negative interference over EDNRA signaling. F0 mouse embryos modeling one Plcb4 variant have facial defects similar to those in hypomorphic Ednra mouse models [3].

In conclusion, Plcb4 is essential for multiple biological processes. Its role in motor learning and craniofacial development has been revealed through mouse models. In addition, abnormal Plcb4 expression is associated with diseases such as pediatric acute myeloid leukemia, where high expression is linked to poor prognosis, highlighting its potential as a prognostic biomarker and therapeutic target [2].