Analysis Tools
cellular
azoospermia
(
J:96442
)
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• no sperm are detected in the lumen of seminiferous tubules or the epididymis
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• very few haploid spermatids are detected, although primary spermatocytes are present
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• spermatogenesis is initiated but ceases prior to the meiotic-division stage
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• in mutant adrenal glands, the prepubescent zone X, which normally regresses at puberty, is still present in the innermost region of the cortex
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reproductive system
azoospermia
(
J:96442
)
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• no sperm are detected in the lumen of seminiferous tubules or the epididymis
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• very few haploid spermatids are detected, although primary spermatocytes are present
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• mutant ovaries exhibit primary and secondary follicles and occasionally an early antral follicle but no large graafian follicles
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small uterus
(
J:96442
)
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• mutant uterine horns are thread-like
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• mutant females show small vaginal openings
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• spermatogenesis is initiated but ceases prior to the meiotic-division stage
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small gonad
(
J:96442
)
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• both adult male and female mutants display hypogonadotropic hypogonadism
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small ovary
(
J:96442
)
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• mutant ovaries are significantly smaller than wild-type
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• mean ovary weight is reduced to 17.5% of wild-type
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small testis
(
J:96442
)
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• mutant testes are significantly smaller than wild-type
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• mean testis weight is reduced to 28% of wild-type
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• adult homozygotes are viable but demonstrate pubertal delay
• sexual infantilism can be corrected by the administration of exogenous gonadotropin-releasing hormone
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anovulation
(
J:96442
)
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• mutant females fail to ovulate
• however, ovulation can be induced after sequential injection of the gonadotropins pregnant mares serum and human chorionic gonadotropin
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• vaginal smears consist of non-keratinized epithelia and mucus strands similar to those seen in immature females
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• mutant females fail to become pregnant after appropriate mating exposure
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endocrine/exocrine glands
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• in mutant adrenal glands, the prepubescent zone X, which normally regresses at puberty, is still present in the innermost region of the cortex
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• mutant female show reduced mammary-duct formation
• no postpubertal maturation of branched epithelial ducts is observed
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• mutant ovaries exhibit primary and secondary follicles and occasionally an early antral follicle but no large graafian follicles
|
small ovary
(
J:96442
)
|
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• mutant ovaries are significantly smaller than wild-type
|
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• mean ovary weight is reduced to 17.5% of wild-type
|
small testis
(
J:96442
)
|
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• mutant testes are significantly smaller than wild-type
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• mean testis weight is reduced to 28% of wild-type
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homeostasis/metabolism
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• mutant males show significantly lower blood testosterone concentrations than wild-type controls
• testosterone concentrations in male mutants mice are similar to those observed in wild-type females
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• female mutants display 17beta-estradiol concentrations that are similar to those in wild-type females at nonestrus stages and to base-line serum estradiol concentrations in wild-type males
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• adult mutant mice exhibit low circulating gonadotropin concentrations relative to wild-type controls
• however, mutant gonads remain sensitive to exogenous gonadotropins while pituitary gonadotropes remain responsive to stimulation by gonadotropin-releasing hormone
• moreover, mutant hypothalamic extracts show normal gonadotropin-releasing hormone concentrations despite observed hypogonadotropism
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• in response to kisspeptins, homozygous mutants do not exhibit a rise in plasma follicle stimulating hormone levels as occurs in wild-type controls
(J:96108)
• both adult male and female mutants show a significant reduction in serum follicle-stimulating hormone levels relative to wild-type controls
(J:96442)
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• in response to kisspeptins (a ligand for Gpr54), homozygous mutants do not exhibit a rise in plasma luteinizing hormone levels as occurs in wild-type controls
(J:96108)
• both adult male and female mutants show a moderate reduction in serum luteinizing hormone levels relative to wild-type controls
(J:96442)
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behavior/neurological
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• no sexual mounting behavior is observed among mutant males
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nervous system
| N |
• gonadotropin-releasing hormone neurons appear normal and exhibit correct projection into the median eminence
(J:96108)
• no gross morphologic abnormalities are detected in the central nervous system
(J:96442)
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renal/urinary system
integument
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• mutant female show reduced mammary-duct formation
• no postpubertal maturation of branched epithelial ducts is observed
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hypogonadotropic hypogonadism 8 with or without anosmia | DOID:0090074 |
OMIM:614837 |
J:96442 | |
