Analysis Tools
reproductive system
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• no phenotypic alternations are seen in females, with females showing normal onset of puberty, anogenital distance, ovary weight, serum androstenedione and testosterone levels, estrous cycle, and fertility
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• anogenital distance of males is shorter at P14 and persists until adulthood
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• absolute weight and relative weight of the ventral prostate are lower
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• absolute weight and relative weight of the seminal vesicle are lower
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• Sertoli cell nuclei are more often misplaced at 2 weeks of age, but this is no longer seen at 4 weeks of age
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• diameter of seminiferous tubules is decreased at 4 weeks and 3 months of age
• however, no gross abnormalities in testicular histology are seen even at 10 months of age
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• marker analysis indicates abnormal Leydig cell maturation, with impaired transition from immature Leydig cell to adult Leydig cell
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• absolute weight and relative weight of testis are lower
• however, cryptorchidism is not seen
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• however, all stages of the seminiferous epithelial cycle are seen in testes at 3 months of age and spermatogenesis progresses without defects
• at 4 weeks of age, a delay is seen in the progress of spermatogenesis: while elongating spermatids are present in wild-type testes, only round spermatids are seen in mutant testis
• although a tendency of lower caudal spermatozoa number, fewer motile spermatozoa, and lower portion of progressively moving spermatozoa is seen, the differences are not significant
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• absolute weight and relative weight of the epididymis are lower
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• onset of puberty is delayed, with males showing balanopreputial separation at 30.4 days of age compared to 25.8 days of age in wild-type males
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• in breeding, males obtain fewer litters indicating lower fertility
• however, litter size and female/male sex ratio of the offspring are similar to wild-type males
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adipose tissue
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• higher body weight is due to increased fat mass
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digestive/alimentary system
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• anogenital distance of males is shorter at P14 and persists until adulthood
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endocrine/exocrine glands
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• absolute weight and relative weight of the pituitary gland are lower in males
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• absolute weight and relative weight of the ventral prostate are lower
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• absolute weight and relative weight of the seminal vesicle are lower
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• Sertoli cell nuclei are more often misplaced at 2 weeks of age, but this is no longer seen at 4 weeks of age
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• diameter of seminiferous tubules is decreased at 4 weeks and 3 months of age
• however, no gross abnormalities in testicular histology are seen even at 10 months of age
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• marker analysis indicates abnormal Leydig cell maturation, with impaired transition from immature Leydig cell to adult Leydig cell
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• absolute weight and relative weight of testis are lower
• however, cryptorchidism is not seen
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growth/size/body
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• higher body weight is due to increased fat mass
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• males are heavier, however overall size of males is not bigger based on unaltered femur length
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• males exhibit a higher spleen weight
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hematopoietic system
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• males exhibit a higher spleen weight
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homeostasis/metabolism
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• testicular androstenedione level is increased in 27-day old males
• intratesticular androstenedione levels are 10-fold higher in 3-month-old males
• testicular dihydrotestosterone levels are unaltered in 27-day old males, however males exhibit an increase in dihydrotestosterone levels after adrenalectomy
• testicular estrone is 10-fold increased in 3-month-old mice
• testicular estradiol is 2-fold lower in 3-month-old mice
• the testosterone/androstenedione ratio is very low due to the extremely high androstenedione levels
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• serum androstenedione concentration is 5-fold higher in 27-day old mice, with the difference further increasing after puberty to 100-fold at 3 months of age
• males exhibit a drop in serum androstenedione concentration after adrenalectomy
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• males show a 3-fold increase in dihydrotestosterone levels at 3 months of age
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• serum luteinizing hormone concentration is increased 40-fold in 3-month old males
• however, no difference is seen in serum follicle stimulating homrone levels in males
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• intratesticular progesterone levels are 3-fold higher in 3-month-old males
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• males show a 5-fold increase in progesterone levels at 3 months of age
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• testicular testosterone levels are lower in 27-day old males
• males exhibit an increase in testosterone levels after adrenalectomy
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• males show a 3-fold increase in testosterone levels at 3 months of age
• intratissue testosterone concentration in the testis is 7-fold higher than in the serum, indicating that serum testosterone is mostly of testicular origin
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immune system
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• males exhibit a higher spleen weight
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nervous system
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• absolute weight and relative weight of the pituitary gland are lower in males
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renal/urinary system
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• absolute weight and relative weight of the kidneys are lower in males
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muscle
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• absolute weight and relative weight of the levator ani muscle are lower in males
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| 17-beta hydroxysteroid dehydrogenase 3 deficiency | DOID:0112248 |
OMIM:264300 |
J:301756 | |
