# Enpp2 haploinsufficiency induces an eye-open-at-birth phenotype in the DBA/2 background

## TL;DR

Reduced Enpp2 gene activity in mice leads to eyes opening at birth, likely due to maternal effects on embryonic development.

## Contribution

Shows that Enpp2 haploinsufficiency in a specific genetic background causes eye-open-at-birth due to eyelid closure failure.

## Key findings

- Enpp2 heterozygous mice in the DBA/2 background frequently exhibit eye-open-at-birth.
- Wildtype pups from Enpp2 heterozygous dams also show the phenotype, indicating maternal LPA's role.
- The phenotype results from eyelid closure failure during embryonic development.

## Abstract

Autotaxin, encoded by the
Enpp2
gene, produces lysophosphatidic acid (LPA), which exerts numerous biological functions via its cognate receptors.
Enpp2
null mutant mice die by embryonic day 9.5 owing to aberrant vascular development in the yolk sac, preventing analysis after that period. In this study, we found that
Enpp2
heterozygous mice in the DBA/2 genetic background showed an eye-open-at-birth phenotype at high frequency, caused by failure of eyelid closure during the embryonic stage. Notably, wildtype pups from the
Enpp2
heterozygous dam showed the phenotype, although at lower frequency, suggesting that maternal LPA affects the embryonic development.