limbs/digits/tail
• interactions between signals for the two axes may be required for normal limb development
• abnormal limb development; dorsal to ventral transformation of cell fate in distal limbs including pigmented dermal thickenings resembling footpads, ventralized tendons, and ventralized sesamoid bones
|
oligodactyly
(
J:23922
)
• digit 5 is often missing or abnormal
|
absent ulna
(
J:23922
)
• the ulna is often missing or abnormal
|
reproductive system
• anterior regions of the mutant reproductive tract display a fimbriated, ciliated epithelium typical of the proximal oviduct while posterior regions show a less elaborately folded mucosa composed of a simple columnar epithelium which resembles the isthmic region of the oviduct
• although regional differentiation occurs along the oviduct, normal elongation and coiling of the oviduct fail to occur
• no visibly coiled oviducts are present in newborn and adult female mutants
|
short oviduct
(
J:50342
)
• mutant oviducts are shortened and uncoiled
|
• in female mutants, the mesenchymally derived uterine stroma is reduced such that the transverse and circular muscles, which are present but also reduced, lie in proximity to the endometrial epithelium
|
• adult female mutants show a nearly complete absence of uterine glands
|
• in female mutants, the neonatal uterus is significantly less muscular than that of wild-type females
|
• both epithelial and mesenchymal differentiation are disrupted in the mutant uterus
|
• epithelial differentiation is disrupted
|
small uterus
(
J:50342
)
• in female mutants, adult uteri are larger than at the neonatal stages but smaller than those of wild-type females
|
thin uterus
(
J:50342
)
• in female mutants, the neonatal uterine wall is thinner and significantly less muscular than that of wild-type females
• the uterine radial diameter is less than half that of wild-type siblings
• in contrast, ovarian development is similar to that of wild-type females, as shown by normal follicular growth, ovulation and cycling in the adult
|
• mutant females are infertile due to abnormal development of the oviduct and uterus, both of which are Mullerian duct derivatives
• however, liveborn offspring are obtained from ovaries transplanted to recipient wild-type females
|
• adult mutant males are infertile due to the presence of non-regressed Mullerian ducts which prevent the exit of sperm
|
skeleton
absent ulna
(
J:23922
)
• the ulna is often missing or abnormal
|
embryo
• although Mullerian ducts are present neonatally, the Mullerian duct derivatives of mutant newborn and adult females fail to differentiate properly
(J:50342)
• the lumen of the Mullerian duct is expanded and the Mullerian duct mesenchyme is more condensed than in mice with conditional loss of Ctnnb1 in the Mullerian duct
(J:171430)
|
• mutant males fail to undergo regression of the Mullerian duct due to absence of the receptor for Mullerian-inhibiting substance
(J:50342)
• non-regressed Mullerian ducts appear as thin, undifferentiated tubes with no regional organization that run alongside the epididymis and the vas deferens from the testis to the urogenital sinus
(J:50342)
• in addition, a second duct appears to prevent the vas deferens from making a proper connection at its distal end
(J:50342)
• however, the testes and Wolffian duct derivatives (epididymis, vas deferens and seminal vesicle) appear normal and mature sperm fill the vas deferens
(J:50342)
|
endocrine/exocrine glands
• adult female mutants show a nearly complete absence of uterine glands
|