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Phenotypes Associated with This Genotype
Genotype
MGI:6508693
Allelic
Composition
Hsd17b3tm1.2Mpo/Hsd17b3tm1.2Mpo
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6N * C57BL/6NCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hsd17b3tm1.2Mpo mutation (0 available); any Hsd17b3 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• 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
• anogenital distance of males is shorter at P14 and persists until adulthood
• absolute weight and relative weight of the ventral prostate are lower
• absolute weight and relative weight of the seminal vesicle are lower
• Sertoli cell nuclei are more often misplaced at 2 weeks of age, but this is no longer seen at 4 weeks of age
• 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
• marker analysis indicates abnormal Leydig cell maturation, with impaired transition from immature Leydig cell to adult Leydig cell
• absolute weight and relative weight of testis are lower
• however, cryptorchidism is not seen
• 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
• however, all stages of the seminiferous epithelial cycle are seen in testes at 3 months of age and spermatogenesis progresses without defects
• 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
• absolute weight and relative weight of the epididymis are lower
• 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
• 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

adipose tissue
• higher body weight is due to increased fat mass

digestive/alimentary system
• anogenital distance of males is shorter at P14 and persists until adulthood

endocrine/exocrine glands
• absolute weight and relative weight of the pituitary gland are lower in males
• absolute weight and relative weight of the ventral prostate are lower
• absolute weight and relative weight of the seminal vesicle are lower
• Sertoli cell nuclei are more often misplaced at 2 weeks of age, but this is no longer seen at 4 weeks of age
• 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
• marker analysis indicates abnormal Leydig cell maturation, with impaired transition from immature Leydig cell to adult Leydig cell
• absolute weight and relative weight of testis are lower
• however, cryptorchidism is not seen

growth/size/body
• higher body weight is due to increased fat mass
• males are heavier, however overall size of males is not bigger based on unaltered femur length
• males exhibit a higher spleen weight

hematopoietic system
• males exhibit a higher spleen weight

homeostasis/metabolism
• 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
• 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
• males show a 3-fold increase in dihydrotestosterone levels at 3 months of age
• 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
• intratesticular progesterone levels are 3-fold higher in 3-month-old males
• males show a 5-fold increase in progesterone levels at 3 months of age
• testicular testosterone levels are lower in 27-day old males
• males exhibit an increase in testosterone levels after adrenalectomy
• 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

immune system
• males exhibit a higher spleen weight

nervous system
• absolute weight and relative weight of the pituitary gland are lower in males

renal/urinary system
• absolute weight and relative weight of the kidneys are lower in males

muscle
• absolute weight and relative weight of the levator ani muscle are lower in males

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
17-beta hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 OMIM:264300
J:301756


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory