Article
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.
Human molecular genetics - 1 Jun 1997
van den Hurk J A, Hendriks W, van de Pol D J, Oerlemans F, Jaissle G, Rüther K, Kohler K, Hartmann J, Zrenner E, van Bokhoven H, Wieringa B, Ropers H H, Cremers F P
Abstract excerpt
Choroideremia (CHM) is an X-linked progressive eye disorder which results from defects in the human Rab escort protein-1 (REP-1) gene. A gene targeting approach was used to disrupt the mouse chm/rep-1 gene. Chimeric males transmitted the mutated gene to their carrier daughters but, surprisingly, these heterozygous females had neither affected male nor carrier female offspring. The targeted rep-1 allele was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.