All Phenotypes Spag6l<tm1Jfs> MGI Mouse

premature death ( J:78433 )

• 50% died within 8 weeks of birth due to hydrocephalus

megacephaly ( J:78433 )

decreased body size ( J:78433 )

• 50% were smaller than wild-type and died prematurely with disproportionately enlarged heads

teratozoospermia ( J:78433 )

• 60% of epididymal sperm and less than 25% of testicular sperm were morphologically abnormal

abnormal sperm flagellum morphology ( J:78433 )

• 42% of epididymal sperm exhibited fragmentation of the midpiece, truncated flagella or sperm decapitation

abnormal outer dense fiber morphology ( J:78433 )

• disorganization of the outer dense fibers is observed in the midpiece and principle piece

abnormal sperm axoneme morphology ( J:78433 )

• 32% and 8% of epididymal sperm lacked the central pair of microtubules of the axoneme in the midpiece and principle piece, respectively, while the external microtubule doublets and outer dense fibers appeared disorganized

absent sperm axonemal central pair ( J:78433 )

• 32% and 8% of epididymal sperm lacked the central pair of microtubules of the axoneme in the midpiece and principle piece, respectively

• in contrast, testicular sperm showed no loss of the central pair of microtubules in the midpiece or principal piece

abnormal sperm midpiece morphology ( J:78433 )

• 28% of epididymal and 23% of testicular sperm display alterations in the outer dense fibers of the midpiece

abnormal sperm principal piece morphology ( J:78433 )

• 24% of epididymal and 14% of testicular sperm display alterations in the fiber sheath and/or outer dense fibers of the principal piece

abnormal sperm fibrous sheath morphology ( J:78433 )

short sperm flagellum ( J:78433 )

• truncated sperm flagella were frequently observed in epididymal sperm

absent sperm head ( J:78433 )

• epididymal sperm heads were frequently lost

asthenozoospermia ( J:78433 )

• a mean of 8% of recovered sperm were motile (vs >50% in heterozygous and wild-type mice) but very few of them showed a progressive forward motion

• flagellar activity was generally limited to a quaking or twitching motion

• the mean curvilinear velocity of epididymal sperm that were motile was significantly reduced, indicating impaired instantaneous swimming speed

• in contrast, linearity, an estimate of the straightness of the sperm cell track, remained normal

reduced female fertility ( J:78433 )

• only 80% of female homozygotes were able to conceive but with a several week delay in the time to pregnancy

male infertility ( J:78433 )

• surviving male homozygotes reached maturity but were infertile

• however, testicular histology showed normal architecture of the seminiferous tubules and interstitial tissue

hydrocephaly ( J:78433 )

• ~50% of homozygotes died with hydrocephalus, putatively due to impaired ependymal ciliary motility

• however, tracheal and ependymal cilia appeared ultrastructurally normal, and no polycystic kidneys or situs inversus were observed

dilated lateral ventricle ( J:78433 )

dilated third ventricle ( J:78433 )