Related Experiment Video
Updated: Feb 28, 2026
12:31
In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
21.4K
Tex11 Mutant Mouse Models of Human Azoospermia
Georgia Rae Atkins1,2, Rachel L Hvasta-Gloria1, Chatchanan Ausavarungnirun1,2
1Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States.
Biorxiv : the Preprint Server for Biology
|February 27, 2026
Summary
Genetic variants in TEX11 can cause non-obstructive azoospermia (NOA) in men. This study validated three TEX11 variants in mice, revealing a frameshift mutation causes infertility and spermatogenic arrest, while a missense mutation had no effect.
Area of Science:
- Genetics
- Reproductive Biology
- Molecular Biology
Background:
- Non-obstructive azoospermia (NOA) is a leading cause of male infertility, characterized by absent sperm production.
- Approximately 50% of NOA cases remain unexplained, suggesting a role for unidentified genetic factors.
- Previous studies implicated variants in the TEX11 gene in male infertility and NOA.
Purpose of the Study:
- To validate the pathogenicity of three previously identified TEX11 variants in NOA patients.
- To investigate the in vivo effects of these variants on spermatogenesis and male fertility using a mouse model.
Main Methods:
- CRISPR/Cas9 gene editing was employed to introduce specific TEX11 variants (frameshift, missense, and a third variant) into the mouse genome.
- Generated mouse lines were phenotyped for testis weight, sperm count, fertility, and testicular histology.
- Wild-type mice served as controls for comparison.
Main Results:
- A frameshift mutation in TEX11 (Tex11D mice) resulted in significantly reduced testis weight, absence of sperm, and complete infertility due to maturation arrest.
- A missense mutation (Tex11A mice) showed no observable effects on spermatogenesis or fertility.
- A third variant (Tex11L mice) led to reduced testis weight and sperm counts, with an incompletely penetrant infertility phenotype, affecting one-third of the mice.
Conclusions:
- The study validates TEX11 as a crucial gene in spermatogenesis, with specific variants directly linked to NOA.
- A frameshift mutation in TEX11 causes a severe spermatogenic defect and infertility in mice.
- TEX11 variants represent a significant genetic cause of male infertility, highlighting the need for genetic screening in NOA patients.
