mortality/aging
• nearly half of mice die within 1 day of birth
|
respiratory system
• dilated distal airways and patchy thickening of mesenchyme in some newborn mice
|
• some mice exhibit reduced artery density in the proximal airways compared with wild-type mice
|
• enlarged in some mice
|
• dilated distal airways in 7 of 21 mice between P1 and P8, more pronounced in accessory and middle lobes of the right lung
|
cardiovascular system
• some mice exhibit reduced artery density in the proximal airways compared with wild-type mice
|
• fatal cardiac lesions in some newborn
|
• in some newborn mice
|
• in some newborn mice
|
muscle
• 6 of 21 mice exhibit an abnormal fusion of the central tendon to the liver surface with disorganized collagen bundles unlike in wild-type mice
|
• in the ventral midline of some neonatal and adult mice with portions of the hernia sac near but not adherent to the liver contains a mixture of hepatocytes and connective tissue cells
• 3 of 21 mice exhibit overt herniation
|
cellular
• increased apoptosis without an affect on cell proliferation in amuscular diaphragm at E13.5
|
skeleton
• 6 of 21 mice exhibit an abnormal fusion of the central tendon to the liver surface with disorganized collagen bundles unlike in wild-type mice
|
reproductive system
N |
• young adult females are fertile with no significant differences in average litter size, frequency of parturition, or ovarian follicular development relative to wild-type controls
|
small ovary
(
J:173711
)
• ovaries of eCG-stimulated immature females are significantly smaller than eCG-treated wild-type ovaries
|
• in response to exogenous gonadotropins, ovaries weigh significantly less than gonadotropin-stimulated wild-type ovaries
• however, unstimulated ovaries exhibit normal weight
|
• ovaries of gonadotropin-stimulated immature females are significantly smaller, release fewer oocytes, produce less estrogen, and exhibit significantly lower mRNA levels of the steroidogenic genes Star, Cyp11a1, and Cyp19a1 than gonadotropin-stimulated wild-type ovaries
• however, basal ovarian levels of mRNA for Star, Cyp11a1 and Cyp19a1 are normal
|
• following eCG stimulation, uteri appear to be hypoestrogenic: glandular elements of the endometrial layer appear less complex, and only scattered glands are found in the stroma
|
• uteri of eCG-stimulated immature females weigh significantly less than eCG-treated wild-type uteri
|
• females exhibit significantly delayed puberty, as indicated by a delay in the onset of estrous cyclicity
• onset of vaginal cornification is moderately but not significantly delayed
• delay in puberty is not due to impaired growth
|
• onset of estrous cyclicity is delayed an average of 12 days relative to wild-type females
• however, average cycle length and the proportion of time spent in any stage of the estrous cycle remain normal
|
• in response to exogenous gonadotropins, immature females release significantly fewer oocytes into the oviducts than superovulated wild-type controls
|
homeostasis/metabolism
• following eCG stimulation, serum estradiol (E2) levels are significantly lower than in eCG-treated wild-type females
• however, basal serum E2 levels are relatively normal
|
endocrine/exocrine glands
small ovary
(
J:173711
)
• ovaries of eCG-stimulated immature females are significantly smaller than eCG-treated wild-type ovaries
|
• in response to exogenous gonadotropins, ovaries weigh significantly less than gonadotropin-stimulated wild-type ovaries
• however, unstimulated ovaries exhibit normal weight
|
• ovaries of gonadotropin-stimulated immature females are significantly smaller, release fewer oocytes, produce less estrogen, and exhibit significantly lower mRNA levels of the steroidogenic genes Star, Cyp11a1, and Cyp19a1 than gonadotropin-stimulated wild-type ovaries
• however, basal ovarian levels of mRNA for Star, Cyp11a1 and Cyp19a1 are normal
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
congenital diaphragmatic hernia | DOID:3827 |
OMIM:142340 OMIM:222400 OMIM:610187 |
J:117367 |