Mice homozygous for the spontaneous blind sterile mutation (bs) are characterized by bilateral nuclear cataracts, smaller than normal eyes, and glossy coats. Female mutant mice are fertile but males are sterile. Cataracts are visible in 16 day embryos and continue to adulthood. Adult male mice copulate normally but have smaller than normal testes. Defects in spermatogenesis lead to a reduced number of sperm and those that are formed completely lack acrosomes.
The blind-sterile mutation arose spontaneously in 1974 on the AKR/J inbred background at The Jackson Laboratory, was selected for characterization by the Mouse Mutant Resource, and transferred to Dr. Don Varnum in 1975. Affected females were bred to C3H/HeJ males and C57BL/6J males and the resultant sets of F1 offspring were intercrossed. The homozygous female offspring were then backcrossed to the F1 heterozygous males. The linked nonagouti allele was retained in the resulting segregating stock. The stock was maintained segregating using homozygous females and heterozygous males. Embryos were generated for cryopreservation in 1995 from C57BL/6J females bred with heterozygous males that were the offspring of homozygous females bred with CBA/Ca males.
|Gene Symbol and Name||Tbc1d20, TBC1 domain family, member 20|
|Strain of Origin||AKR/J|
|Molecular Note||Positional cloning identified a c.691T>A substitution and c.692_703del deletion (in-frame p.Arg232_Val235 deletion) in exon 6, which togther result in p.Phe231_Val235delinsMet. Functional analysis indicates this is a loss of function mutation.|
When maintaining a live colony, heterozygous mice may be bred together. Not all homozygous females will breed and male homozygotes are sterile. May need to foster pups as females are not good providers.
When using the blind-sterile mouse strain in a publication, please cite the originating article(s) and include JAX stock #000385 in your Materials and Methods section.