mortality/aging
• homozygotes survive to term but die within 24 hours after birth
|
behavior/neurological
• although initially indistinguishable from wild-type mice, homozygotes fail to feed
|
respiratory system
renal/urinary system
N |
• induction and condensation of the nephrogenic mesenchyme occurs normally
• the stromal cell component appears morphologically normal
|
• at term, the tips of mutant collecting ducts are larger than those in wild-type mice
|
• at E14.5, mutant kidneys have no distinct nephrogenic zone and contain very few S-shaped and comma-shaped bodies, unlike wild-type kidneys
• abnormally large mesenchymal aggregations (5-20 cell layers thick) are observed in the cortical and the medullary regions
|
• at E14.5, differentiation of the metanephric mesenchyme to the tubular structures of the nephrons is inhibited
|
• defects in nephrogenic mesenchyme are observed
|
• no distinct nephrogenic zone is observed at E14.5
|
• mutant kidneys are smaller than wild-type by 2-fold at E14.5, 2.5-fold at E16.5, and 3.3-fold at term (P0)
|
small kidney
(
J:33767
)
• at E14.5, mutant kidneys are about one-half of wild-type size
• at term, mutant kidneys are less than one-third of wild-type size
• however, mutant and wild-type kidneys are identical in size at E12.5
|
• at term, reduced nephron number is associated with large mesenchymal condensations in the cortical and medullary regions of the kidney
|
• at term, the total number of glomeruli in mutant kidneys is only about 7% of that in wild-type mice
|
pelvic kidney
(
J:33767
)
• at term, mutant kidneys are rotated 90 degrees ventrally, remain in the pelvis rather than ascending to their usual position in the lumbar region, and are thus separated from the adrenal glands
|
fused kidneys
(
J:33767
)
• at term, mutant kidneys are fused longitudinally through apposition of the capsule
|
• at E14.5, mutant ureters are located on the ventral side of kidneys
|
short ureter
(
J:33767
)
• mutant ureters are about one-half of wild-type length but of normal diameter
|
• at E14.5, the pattern of ureteric bud branching remains dichotomous but appears abnormal
• the number of ureteric branches is reduced by 8- to 16-fold relative to than in wild-type kidneys
|
endocrine/exocrine glands
• mutant adrenal glands are separated from the kidneys
|
• mutant adrenal glands are about half of wild-type size
|
vision/eye
• mild retinal abnormalities are observed
|
nervous system
• mild forebrain abnormalities are observed
|
digestive/alimentary system
growth/size/body