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Related Experiment Video

Updated: Sep 13, 2025

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Published on: January 4, 2017

TSPEAR S475TfsX79 mutation does not affect auditory function, tooth morphology or hair development in mice.

Haibo Du¹, Xi Huang², Rui Ren³

¹Air Characteristic Medical Center affiliated to PLA Air Force Medical University, Beijing 100142, China; Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology, School of Life Sciences, Shandong University, Qingdao, Shandong 266237, China.

|July 27, 2025

Summary

The TSPEAR S475TfsX79 mutation in mice does not affect hearing, teeth, or hair. However, this TSPEAR gene mutation impacts Notch and Wnt signaling pathways, suggesting a role in cellular communication.

Keywords:

Hair cells Hearing TSPEAR Truncation

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Last Updated: Sep 13, 2025

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Published on: January 4, 2017

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Published on: February 21, 2016

Area of Science:

Genetics and Molecular Biology
Developmental Biology
Otolaryngology

Background:

TSPEAR is part of the epilepsy-associated repeat (EAR) protein family with an unclear function.
Human TSPEAR gene mutations are linked to hearing loss and ectodermal dysplasia.
Previous studies in zebrafish showed tooth and regeneration defects, but a mouse model was lacking.

Purpose of the Study:

To investigate the physiological role of TSPEAR in mice.
To characterize the TSPEAR knockout mouse model using CRISPR/Cas9.
To determine the effects of a specific TSPEAR mutation (S475TfsX79) on auditory function, tooth morphology, and hair development.

Main Methods:

CRISPR/Cas9-mediated genome editing to inactivate the Tspear gene in mice.
Analysis of stereociliary morphology and auditory function in mutant mice.
Assessment of tooth and hair morphology in TSPEAR mutant mice.
Investigation of Notch and Wnt signaling pathway activity in mutant tissues.

Main Results:

Stereociliary morphology and auditory function were unaffected in TSPEAR S475TfsX79 mutant mice.
Tooth morphology and hair development remained normal in the absence of functional TSPEAR.
The S475TfsX79 mutation altered Notch signaling, downregulating Notch1 and its targets while upregulating Hey1.
Wnt4 expression was elevated in both skin and inner ear tissues of mutant mice.

Conclusions:

The TSPEAR S475TfsX79 mutation does not impair auditory function, tooth morphology, or hair development in mice.
TSPEAR plays a role in modulating Notch and Wnt signaling pathways in mice.
This study establishes a TSPEAR knockout mouse model for further research into its physiological functions.