Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice

R Liegel, B Chang, R Dubielzig, DJ Sidjanin - Molecular genetics and …, 2011 - Elsevier
Blind sterile 2 (bs2) is a spontaneous autosomal recessive mouse mutation exhibiting
cataracts and male sterility. Detailed clinical and histological evaluation revealed that bs2
mice have cataracts resulting from severely disrupted lens fiber cells. Analysis of bs2 testes
revealed the absence of mature sperm and the presence of large multinucleate cells within
the lumens of seminiferous tubules. Linkage analysis mapped the bs2 locus to mouse
chromosome 2, approximately 45cM distal from the centromere. Fine mapping established a …