• PMID: 8557197
• Gene Name: RXRB
• Condition: Abnormal spermatogenesis
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Abnormal spermatogenesis

Abnormal spermatogenesis in RXR beta mutant mice

Kastner P, Mark M, Leid M, Gansmuller A, Chin W, Grondona JM, Décimo D, Krezel W, Dierich A, Chambon P.

We have generated mouse lines in which the RXR beta gene was disrupted by homologous recombination. Approximately 50% of the RXR beta homozygous mutants died before or at birth, but those that survived appeared normal except that the males were sterile, owing to oligo-astheno-teratozoospermia. Failure of spermatid release occurred within the germinal epithelium, and the epididymis contained very few spermatozoa that, in addition, exhibited abnormal acrosomes and tails. There was a progressive accumulation of lipids within the mutant Sertoli cells, which were histochemically characterized as unsaturated triglycerides. In old mutant males, progressive degeneration of the germinal epithelium occurred, ending with the formation of acellular lipid-filled tubules. The selective expression of RXR beta in Sertoli cells, together with the timing of appearance of the histological abnormalities, suggests that the primary defect resulting from the mutation resides in these cells. FAU - Kastner, P AU - Kastner P AD - Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université Louis Pasteur (ULP), Collège de France, Illkirch, France. FAU - Mark, M AU - Mark M FAU - Leid, M AU - Leid M FAU - Gansmuller, A AU - Gansmuller A FAU - Chin, W AU - Chin W FAU - Grondona, J M AU - Grondona JM FAU - Décimo, D AU - Décimo D FAU - Krezel, W AU - Krezel W FAU - Dierich, A AU - Dierich A