A. Lalouette et al., MALE-STERILITY CAUSED BY SPERM CELL-SPECIFIC STRUCTURAL ABNORMALITIESIN EBOURIFFE, A NEW MUTATION OF THE HOUSE MOUSE, Biology of reproduction, 55(2), 1996, pp. 355-363
We have investigated the male sterility associated with a new recessiv
e mutation of the house mouse: ebouriffe (ebo). All spermatozoa presen
t in the epididymis showed severe malformations, mostly of the tail. L
ight and electron microscopy showed a drastic decrease of the spermati
d population, whereas spermatogonia and spermatocytes seemed moderatel
y affected. This suggests that the mutation affects mostly spermiogene
sis. Defects appeared during formation of the acrosome: the acrosomal
granule was frequently vacuolated at stages II-III, giving rise first
to abnormal acrosomes (stages VI-VII) with dilations and perforations,
and then to an abnormal head and acrosome shape (stages IX-XI). Howev
er, the most common malformations affected the flagella in elongated s
permatids. Sometimes the centriole doublet did not move into the impla
ntation fossa, causing an unattached and isolated flagellum. The major
defect occurred in the midpiece region of differentiating spermatozoa
: flagellar components were present but highly disorganized, and mitoc
hondria were aggregated in a compact mass. Even though we have no evid
ence that the ebo gene is a testis structural gene or a regulatory gen
e that disrupts the complex spermatogenesis process, this mutation may
provide an interesting tool for studying the late stages of spermatog
enesis. Using an interspecific backcross, we localized the ebo mutatio
n on chromosome 2, with no recombination out of 44 meioses with locus
D2Mit32.