Mice homozygous for the blind-sterile 2 mutation display nuclear cataracts, microphthalmia, smaller than normal lens with improper differentiation of lens epithelial cells to fiber cells with vacuolation, morganian globules, bladder cells and detachment of the apical-apical junctions of epithelial and fiber cells, although the lens epithelial cells appear normal at the anterior of the lens. Males have abnormally small testes with disrupted seminiferous tubules lacking mature spermatozoa or elongating spermatids. Although male homozygotes are sterile, female homozygotes are not.
The blind-sterile 2 mutation arose spontaneously in the C3H/HeOuJ inbred strain at The Jackson Laboratory in 1990. When this mutation was cryopreserved in 1995 the stock background at that time was reported to include C57BL/6J, C3H, DBA/2J, and CBA/CaJ and the blind-sterile 2 mutation was in coupling with the nonagouti mutation. Embryos were generated for cryopreservation from C57BL/6J females bred with beterozygous males. Prior to freezing this STOCK had been maintained by breeding homozygous females with heterozygous males.
|Allele Name||blind-sterile 2|
|Gene Symbol and Name||Agps, alkylglycerone phosphate synthase|
|Strain of Origin||C3H/HeOuJ|
|Molecular Note||A spontaneous mutation results in the G to A transition in intron 14 (IVS14+5G>A) that results in the production of two truncated transcripts that skip exon 14 or exons 13+14 causing frame shifts and premature stop codons (Glu467fsX474 and Phe441fsX456).|