cellular
azoospermia
(
J:24123
)
• mature sperm was undetected at 4 weeks of age
|
reproductive system
• 3 of 11 adult male homozygotes show normal ductal architecture in one main duct and a partial posterior transformation of the other main duct
• in affected regions, the presence of multiple thin secondary ducts and multiple tertiary branches resembles the architecture of the dorsal prostate
|
• the coagulating gland (anterior prostate) is slightly smaller than normal
• in contrast, the dorsal and ventral prostate lobes are of normal size
|
• adult male homozygotes show a significant decrease in coagulating gland branches and duct tips
• no significant differences are noted in the number of duct tips in the dorsal or ventral prostate
|
• adult male homozygotes show incompletely formed ("hypomorphic") seminal vesicles, with variably reduced depth and complexity of folding in the stromal sheath
• in spite of diminished clefting, mutant seminal vesicles are of normal length and diameter, and differentiation of the stroma and epithelium and secretory product within the lumen appear unaffected
|
small testis
(
J:24123
)
|
• bilateral cryptorchism
• varying positions from perinephric to lower abdomen
|
azoospermia
(
J:24123
)
• mature sperm was undetected at 4 weeks of age
|
• failure of cord shortening and bulb outgrowth
|
• all male homozygotes show an anterior homeotic transformation of the cranial ductus deferens to epididymis
• the remaining regions of the ductus deferens appear normal
|
• 78% were sterile due to defects in preimplantation development of blastocysts
|
• 40% of males were sterile when tested at 6 to 12 weeks of age
|
• many males that were fertile at 6 to 12 weeks of age became sterile
|
skeleton
• failure of cord shortening and bulb outgrowth
|
• extra rib
|
• extra T13 vertebrae
|
endocrine/exocrine glands
• 3 of 11 adult male homozygotes show normal ductal architecture in one main duct and a partial posterior transformation of the other main duct
• in affected regions, the presence of multiple thin secondary ducts and multiple tertiary branches resembles the architecture of the dorsal prostate
|
• the coagulating gland (anterior prostate) is slightly smaller than normal
• in contrast, the dorsal and ventral prostate lobes are of normal size
|
• adult male homozygotes show a significant decrease in coagulating gland branches and duct tips
• no significant differences are noted in the number of duct tips in the dorsal or ventral prostate
|
• adult male homozygotes show incompletely formed ("hypomorphic") seminal vesicles, with variably reduced depth and complexity of folding in the stromal sheath
• in spite of diminished clefting, mutant seminal vesicles are of normal length and diameter, and differentiation of the stroma and epithelium and secretory product within the lumen appear unaffected
|
small testis
(
J:24123
)
|
• bilateral cryptorchism
• varying positions from perinephric to lower abdomen
|