129S;AKR-Tbc1d20^bs/J

Stock number: 000385
Product name: blind-sterile
Research areas: Reproductive Biology Research, Sensorineural Research

Description

These mice carry a spontaneous mutation at the Tbc1d20 locus characterized by bilateral nuclear cataracts, smaller than normal eyes, and glossy coats.

Detailed description

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.

Development

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.

Allele

Symbol: Tbc1d20^bs
Name: blind-sterile
MGI accession ID: MGI:1856684
Generation method: Spontaneous
Marker symbol: Tbc1d20
Marker name: TBC1 domain family, member 20
Marker synonyms: 1110028I04Rik; 2810442O16Rik; bs; C20orf140; WARBM4
Chromosome: 2
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.