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Phenotypes Associated with This Genotype
Genotype
MGI:4430075
Allelic
Composition
Tbc1d20bs/Tbc1d20bs
Genetic
Background
129S;AKR-Tbc1d20bs/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbc1d20bs mutation (1 available); any Tbc1d20 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• failure of acrosome formation in spermatids
• depletion of germ cells in the testes
• however, the numbers of spermatogonia or Sertoli cells are normal
• increase in the number of TUNEL+ cells in the seminiferous epithelia
• in adults
• 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
• mouse embryonic fibroblasts exhibit aberrant lipid droplet formation, showing a greater number of lipid droplets after oleic acid treatment
• mouse embryonic fibroblasts exhibit enlarged Golgi
• failure of acrosome formation in spermatids
• depletion of germ cells in the testes
• however, the numbers of spermatogonia or Sertoli cells are normal

endocrine/exocrine glands
• increase in the number of TUNEL+ cells in the seminiferous epithelia
• in adults

vision/eye
• by P28, severe lens degeneration with large vacuoles in the lens body
• rupture of the lens capsule and lentricular material in the vitreous cavity is seen by P28
• by P10, lenses exhibit severely degenerated TUNEL+ nuclear fiber cells
• lenses at E17.5 exhibit degenerated nuclear fibers with small vacuoles between cortical fibers
• nuclear opacities are seen in the eyes at P14 that progress to total opacities with irregularly patterned vacuoles by P28
• lenses at E15.5 appear normal, however at E17.5, they are smaller in size

nervous system
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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory