Analysis Tools
adipose tissue
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• in all major fat depots
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• at 3 months, white epididymal and subcutaneous fat contains only small immature adipocytes unlike in wild-type mice
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• at 3 months, white epididymal fat contains only small immature adipocytes unlike in wild-type mice
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• absent
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• at 3 months, subcutaneous fat contains only small immature adipocytes unlike in wild-type mice
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• males exhibit severe lipodystrophy
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homeostasis/metabolism
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• in a glucose or insulin tolerance test
• in fasted mice
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• in fed mice
(J:173404)
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• increase in fed plasma insulin levels
(J:211072)
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• only in fed mice
(J:173404)
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(J:211072)
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• in fasted mice
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• from time to time
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• in a glucose tolerance test, mice exhibit delayed glucose clearance compared with wild-type mice
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• the relative content of phosphatidic acid is 133% higher in the testis
• phosphatidylcholine and phospholipid levels are 19% and 16% higher, respectively, in the testis
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• 200%
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liver/biliary system
| N |
• mice do not exhibit steatohepatitis
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• 200%
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• mainly macrovascular steatosis
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• some microvascular steatosis
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immune system
growth/size/body
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• until 6 weeks of age
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hematopoietic system
integument
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• at 3 months, subcutaneous fat contains only small immature adipocytes unlike in wild-type mice
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cellular
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• at 3 months, white epididymal and subcutaneous fat contains only small immature adipocytes unlike in wild-type mice
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• oligoasthenoteratozoospermia
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• lower sperm counts
• cauda epididymides are almost entirely devoid of sperm but contain numerous spherical cells
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• sperm is morphologically abnormal, with 60% of sperm showing head and tail abnormalities compared to 6% of controls
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• tail defects include folded sperm or sheath abnormalities
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• defects in sperm heads include lack of the usual hook and banana-like or amorphous forms
• some sperm exhibit cavities in the sperm head
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• the numbers of spermatocytes in stages VII and VII seminiferous tubules are similar to wild-type mice, but tubules contain fewer round spermatids, indicating loss of round spermatids
• presence of large ectopic lipid droplets in round, elongating and elongated spermatids
• spermatids exhibit defects in chromatin condensation
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• lower percentage of motile sperm
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endocrine/exocrine glands
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• testes contain many degenerating masses composed of fragmented spermatids and large lipid droplets
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reproductive system
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• oligoasthenoteratozoospermia
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• lower percentage of motile sperm
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• testes contain many degenerating masses composed of fragmented spermatids and large lipid droplets
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• testes contains prominent bundles of two or more interconnected sperm
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• lower sperm counts
• cauda epididymides are almost entirely devoid of sperm but contain numerous spherical cells
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• sperm is morphologically abnormal, with 60% of sperm showing head and tail abnormalities compared to 6% of controls
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• tail defects include folded sperm or sheath abnormalities
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• defects in sperm heads include lack of the usual hook and banana-like or amorphous forms
• some sperm exhibit cavities in the sperm head
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• the numbers of spermatocytes in stages VII and VII seminiferous tubules are similar to wild-type mice, but tubules contain fewer round spermatids, indicating loss of round spermatids
• presence of large ectopic lipid droplets in round, elongating and elongated spermatids
• spermatids exhibit defects in chromatin condensation
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• males exhibit structural defects in late spermiogenesis; abnormal clustering of late spermatids of seminiferous tubules at stages VII and VIII of the seminiferous epithelial cycle, with the heads of these spermatids randomly oriented instead of being aligned perpendicular to the seminiferous tubule basement membrane
• seminiferous tubule sections near completion of spermiogenesis contain massive accumulations of spermatids in bundle-like structures
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• males exhibit normal mating behavior, however, no pregnancies or offspring are seen in breeding pairs of wild-type females and mutant males
• however, males show normal serum FSH, LH, testosterone and estradiol levels
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital generalized lipodystrophy type 2 | DOID:0111136 |
OMIM:269700 |
J:173404 , J:211072 | |
