Phenotypes Associated with This Genotype

Genotype
MGI:4430075

• Allelic Composition: Tbc1d20^bs/Tbc1d20^bs
• Genetic Background: 129S;AKR-Tbc1d20^bs/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

reproductive system

absent acrosome ( J:206668 )

♂ • failure of acrosome formation in spermatids

decreased male germ cell number ( J:206668 )

♂ • depletion of germ cells in the testes

♂ • however, the numbers of spermatogonia or Sertoli cells are normal

abnormal seminiferous tubule epithelium morphology ( J:206668 )

♂ • increase in the number of TUNEL+ cells in the seminiferous epithelia

small testis ( J:206668 )

♂ • in adults

arrest of spermatogenesis ( J:88151 )

♂ • the most advanced spermatogenic cells found are round spermatids, and no elongated spermatids or spermatozoa are found, but these round spermatids can be used successfully in the generation of offspring via the round spermatid injection (ROSI) technique

cellular

abnormal cell morphology ( J:206668 )

• mouse embryonic fibroblasts exhibit aberrant lipid droplet formation, showing a greater number of lipid droplets after oleic acid treatment

absent acrosome ( J:206668 )

♂ • failure of acrosome formation in spermatids

decreased male germ cell number ( J:206668 )

♂ • depletion of germ cells in the testes

♂ • however, the numbers of spermatogonia or Sertoli cells are normal

abnormal Golgi apparatus morphology ( J:206668 )

• mouse embryonic fibroblasts exhibit enlarged Golgi

endocrine/exocrine glands

abnormal seminiferous tubule epithelium morphology ( J:206668 )

♂ • increase in the number of TUNEL+ cells in the seminiferous epithelia

small testis ( J:206668 )

♂ • in adults

vision/eye

abnormal lens morphology ( J:206668 )

• by P28, severe lens degeneration with large vacuoles in the lens body

ruptured lens capsule ( J:206668 )

• rupture of the lens capsule and lentricular material in the vitreous cavity is seen by P28

abnormal lens fiber morphology ( J:206668 )

• lenses at E17.5 exhibit degenerated nuclear fibers with small vacuoles between cortical fibers

• by P10, lenses exhibit severely degenerated TUNEL+ nuclear fiber cells

cataract ( J:206668 )

• nuclear opacities are seen in the eyes at P14 that progress to total opacities with irregularly patterned vacuoles by P28

small lens ( J:206668 )

• lenses at E15.5 appear normal, however at E17.5, they are smaller in size

nervous system

nervous system phenotype ( J:206668 )

♂N • no obvious brain abnormalities are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Warburg micro syndrome 4		DOID:0110719	OMIM:615663	J:206668