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Lookup NU author(s): Dr Chris DerrickORCiD, Dr Lorraine EleyORCiD, David Henderson, Dr Bill ChaudhryORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2026 The Author(s). Developmental Dynamics published by Wiley Periodicals LLC on behalf of American Association for Anatomy.Background: Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function. We set out to characterize the invssa12246 allele in zebrafish to investigate its utility in understanding patient disease. Results: The left–right axis is established correctly in invssa12246 mutants, kidneys appear to develop normally without any cysts and cilia appear normal, however mutants are significantly shorter. In post-embryonic stages, invssa12246 mutants display significant growth delay and signs of retinal mis-patterning together with spinal deformities reminiscent of idiopathic scoliosis. The allele is lethal in the juvenile stage. Conclusions: We show that invssa12246 allele has a distinct phenotype from other models where inversin function is disrupted, uncovering novel roles in post-embryonic development.
Author(s): Derrick CJ, Eley L, Henderson DJ, Chaudhry B
Publication type: Note
Publication status: Published
Journal: Developmental Dynamics
Year: 2026
Pages: Epub ahead of print
Online publication date: 21/05/2026
Acceptance date: 11/05/2026
ISSN (print): 1058-8388
ISSN (electronic): 1097-0177
Publisher: John Wiley and Sons Inc
URL: https://doi.org/10.1002/dvdy.70147
DOI: 10.1002/dvdy.70147
Data Access Statement: The data that support the findings of this study are avail able from the corresponding author upon reasonable request.
