Analysis Tools
mortality/aging
|
• death occurred 16-24 hours after birth
(J:23852)
|
cardiovascular system
| N |
• no gross abnormalities, the ventricles, atria, valves, aorta and pulmonary trunk showed no defects
|
digestive/alimentary system
|
• failure of milk to progress from the stomach to the intestine
(J:23852)
|
renal/urinary system
|
• remaining kidney rudiments are dysplastic with few nephric elements (proximal and distal tubules, glomeruli, and vessels) and no recognizable medulla, cortex, or nephrogenic zone
(J:23852)
• dysplastic
(J:30389)
|
|
• absence of mature collecting ducts
|
|
• persistence of large regions of undifferentiated mesenchyme
|
|
• the metanephric mesenchyme did not condense by E11.5
|
|
• the metanephric mesenchyme underwent apoptosis at E12.5
|
|
• no recognizable nephrogenic zone
|
small kidney
(
J:30389
)
|
• rudimetary and are of similar size to the adrenal glands when present
|
|
• variable penetrance; kidneys are absent or rudimetary; both unilateral and bilateral effects were observed
(J:23852)
• variable penetrance
(J:30389)
|
|
• variable severity; some animals exhibited an absent ureter and kidney, while others exhibited blind ureters with no renal tissue
(J:23852)
• sometimes absent or blind-ending
(J:30389)
|
|
• reduced branching of the ureter
|
|
• sometimes absent
(J:30389)
|
|
• sometimes blind-ending
(J:30389)
|
|
• of those buds that entered the mesenchyme, the growth and branching was abnormal, if occuring at all
|
|
• when the uteric bud was present, growth was retarded
|
|
• in approximately half of the mutant embryos, the uteric bud failed to evaginate although a mesenchymal blastema and a Wollfian duct were present in metanephroi
• when the uteric bud was present, growth was retarded and either failed to enter the mesenchyme or was delayed; at E11.0, 8% of the mutant buds had entered the mesenchyme
|
respiratory system
|
• underdeveloped or collapsed lungs; likely a secondary effect of deficient amniotic fluid production by the kidneys
|
nervous system
|
• no neurons in the small or large intestine, esophagus or stomach
(J:23852)
• neurons and glia were absent from the distal stomach, duodenum, small and large intestine, but not the esophagus or the proximal stomach as determined by TH, NF or MASH-1 immunoreactivity
(J:30830)
|
|
• cardiac ganglion volume was 56% smaller than controls, due to a reduction in neuronal cell number
|
|
• in two of six hearts, the AV node, the AV bundle and the proximal bundle branches were devoid of cholinergic fibers
|
|
• occasionally larger than in controls
|
|
• absent as early as E12.5, while all other sympathetic ganglia were present
|
embryo
|
• the metanephric mesenchyme underwent apoptosis at E12.5
|
|
• mutant enteric crest cells were detected in the esophagus and proximal stomach, but not the rest of the gastrointestinal tract
|
|
• reduced numbers of mesonephric tubules were observed at E11.5
|
cellular
|
• the metanephric mesenchyme underwent apoptosis at E12.5
|
|
• mutant enteric crest cells were detected in the esophagus and proximal stomach, but not the rest of the gastrointestinal tract
|
homeostasis/metabolism
|
• deficient amniotic fluid production by the kidneys
|
muscle
|
• failure of milk to progress from the stomach to the intestine
(J:23852)
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Hirschsprung's disease | DOID:10487 |
OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644 |
J:23852 , J:30389 | |
