2023
DOI: 10.1007/s00335-023-10016-1
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A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle

Yuka Iwanaga,
Kaori Tsuji,
Ayaka Nishimura
et al.

Abstract: The spontaneous mutation stubby (stb) in mice causes chondrodysplasia and male infertility due to impotence through autosomal recessive inheritance. In this study, we conducted linkage analysis to localize the stb locus within a 1.6 Mb region on mouse chromosome 2 and identified a nonsense mutation in Adamtsl2 of stb/stb mice. Histological analysis revealed disturbed endochondral ossification with a reduced hypertrophic chondrocyte layer and stiff skin with a thickened dermal layer. These phenotypes are simila… Show more

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