Analysis Tools
mortality/aging
|
• all homozygotes die by 1 year of age with a median survival of 211 days
|
renal/urinary system
kidney cyst
(
J:37799
)
|
• bilateral polycystic kidney disease with a progressive increase in the number and size of cysts in the kidney cortex, with faster progression than in kat homozygotes
• cysts seem to be dilated proximal tubules and Bowman spaces
|
|
• bilateral and symmetrical with similar exression in females and males until 6 months of age when cystic lesions advance more rapidly in femaeles
(J:59839)
• at 5 days of age no cycsts are found, but by 1 month of age small clusters of glomerular cysts are found with dilated proximal tubules lined by eosinophilic epithelium with a brush border and cysts lined with cuboidal or flat epithelium
(J:59839)
• with age much of the renal cortex is replaced by variably sized cysts at all levels of the nephron and the medullary tubules are dilated
(J:59839)
|
nervous system
|
• at 7 months of age the lateral, third, and fourth ventricles and cerebral aqueduct are dilated
|
|
• at 7 months of age the lateral, third, and fourth ventricles and cerebral aqueduct are dilated
|
|
• at 7 months of age the choroid plexus has multiple large cysts present in the interstitium
|
|
• at 7 months of age the lateral, third, and fourth ventricles and cerebral aqueduct are dilated
|
|
• most of the olfactory glomerular and external granular layers are absent, and in places are replaced by lacy vacuolated tissue
|
|
• olfactory lobes are approximately half normal size
|
endocrine/exocrine glands
small testis
(
J:37799
)
 |
• at all ages assessed
|
craniofacial
|
• foreshortened face, particularly the snout
|
reproductive system
small testis
(
J:37799
)
|
|
• at all ages assessed
|
|
|
• less than normal level of spermatogenesis as assessed histologically
|
 |
• female homozygotes occassionally breed and have morphologically normal ovaries
|
|
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• males are sterile
|
growth/size/body
|
• runts at birth
|
kidney cyst
(
J:37799
)
|
• bilateral polycystic kidney disease with a progressive increase in the number and size of cysts in the kidney cortex, with faster progression than in kat homozygotes
• cysts seem to be dilated proximal tubules and Bowman spaces
|
|
• bilateral and symmetrical with similar exression in females and males until 6 months of age when cystic lesions advance more rapidly in femaeles
(J:59839)
• at 5 days of age no cycsts are found, but by 1 month of age small clusters of glomerular cysts are found with dilated proximal tubules lined by eosinophilic epithelium with a brush border and cysts lined with cuboidal or flat epithelium
(J:59839)
• with age much of the renal cortex is replaced by variably sized cysts at all levels of the nephron and the medullary tubules are dilated
(J:59839)
|
|
• although homozygotes gain weight with age, thay are consistently smaller than controls throughout their lives and have abdominal distention from the enlarged kidneys
|
hematopoietic system
|
• hematocrit falls progressively as homozygotes age and many are anemic before they are weaned
(J:59839)
|
|
• marked by 7 to 8 months of age
|
homeostasis/metabolism
|
• marked by 7 months of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive polycystic kidney disease | DOID:0110861 | J:37799 | ||
