Characterization of the Pulmonary Phenotype of a Zfhx4 Mutant Mouse Model During Embryonic Development


Sara Hunstad

Document Type


Publication Date

Summer 2023



JAX Location

In: Student Reports, Summer 2023, The Jackson Laboratory


Zinc finger homeobox 4 (ZFHX4) was identified previously as a candidate gene for congenital diaphragmatic hernia (CDH), a human structural birth anomaly that affects the diaphragm and lungs. Laboratory mice on a C57BL/6J background with a truncated Zfhx4 gene recapitulate the lung hypoplasia and palatal characteristics observed in human CDH patients. To further characterize the abnormal lung phenotype of our Zfhx4 mutant mice, we investigated the lung phenotypes of wild type, heterozygous, and mutant Zfhx4 mice during embryogenesis. We also worked to determine whether the Zfhx4 mutant mice expressed a Zfhx4 transcript, in an effort to connect potential ZFHX4 mutant protein expression to the lung phenotype we see in those mice. We found that the abnormal lung phenotype in Zfhx4 mutant mice is not apparent until late embryogenesis and that there is incomplete penetrance of the phenotype. We also established that Zfhx4 mutant mice do express a mutant transcript, which may help us to further investigate the function of ZFHX4 and a possible connection between ZFHX4 expression and CDH.

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