adipose tissue
• wet weights of subcutaneous, infrarenal and intraperitoneal white adipose tissues are significantly increased by 30 weeks of age
• serum lipid parameters and food intake remain unaffected
|
endocrine/exocrine glands
cryptorchism
(
J:85484
)
• inguinal testes
|
• small degenerating testes
|
growth/size/body
• after 10 weeks of age, the growth of males increased dramatically
• by 12 weeks of age, the body weights of mutant males are higher than those of wild-type males
|
• growth retardation in males through 10 weeks of age
|
renal/urinary system
• clitoris-like phallus instead of a penis and scrotum
|
reproductive system
cryptorchism
(
J:85484
)
• inguinal testes
|
• small degenerating testes
|
• clitoris-like phallus instead of a penis and scrotum
|
blind vagina
(
J:85484
)
• vagina with a blind end
|
• feminization of external appearance, including a blind vagina and a clitoris-like phallus, with absence of internal male and female reproductive organs, except for atrophic testes
• no ovaries or uteri are observed
|
• lower levels of androgens
• estradiol levels typical for a male
|
cardiovascular system
• in response to angiotensin-II stimulation, male homozygotes show a smaller increase in the cross-sectional area of cardiomyocytes relative to wild-type males
|
• after 6 weeks of age, male homozygotes show a significantly reduced cross-sectional area of cardiomyocytes in LV tissues relative to wild-type males
|
small heart
(
J:101049
)
• after 6 weeks of age, male homozygotes exhibit a cardiac size reduction relative to wild-type males
• in response to angiotensin-II stimulation, male homozygotes show a smaller increase in cardiac size relative to wild-type males
|
• male homozygotes display no significant differences in basal levels of systolic blood pressure and heart rate; however, after 6 weeks of age, male homozygotes show a significant reduction in HW/BW ratio relative to wild-type males
• in response to angiotensin-II stimulation, male homozygotes display a smaller increase in HW/BW ratio relative to wild-type males
|
• after 6 weeks of age, male homozygotes display a reduced LV volume relative to wild-type males
• in response to angiotensin-II stimulation, male homozygotes exhibit an impaired hypertrophic response with lower cardiac LV volumes that is partly associated with reduced activation of mitogen-activated protein kinases 1/2 and 5
|
• after 6 weeks of age, male homozygotes exhibit a reduced left ventricular (LV) wall thickness relative to wild-type males
• in response to angiotensin-II stimulation, male homozygotes show a lower increase in LV wall thickening relative to wild-type males
|
• in response to angiotensin-II stimulation, 25-wk-old male homozygotes display an exacerbated interstitial fibrosis in the left ventricular area relative to age-matched wild-type males
• enhanced angiotensin-II-mediated cardiac interstitial fibrosis is associated with up-regulation of collagen I and III gene expression and enhanced cardiac transforming growth factor-beta1 and Smad2 activation
|
• at 25 weeks, male homozygotes exhibit a normal left ventricular fractional shortening (a marker of systolic function) relative to wild-type males
• however, in response to angiotensin-II stimulation, male homozygotes display a significantly attenuated LV systolic function relative to wild-type males
|
muscle
• in response to angiotensin-II stimulation, male homozygotes show a smaller increase in the cross-sectional area of cardiomyocytes relative to wild-type males
|
• after 6 weeks of age, male homozygotes show a significantly reduced cross-sectional area of cardiomyocytes in LV tissues relative to wild-type males
|
• at 25 weeks, male homozygotes exhibit a normal left ventricular fractional shortening (a marker of systolic function) relative to wild-type males
• however, in response to angiotensin-II stimulation, male homozygotes display a significantly attenuated LV systolic function relative to wild-type males
|
cellular
• in response to angiotensin-II stimulation, 25-wk-old male homozygotes display an exacerbated interstitial fibrosis in the left ventricular area relative to age-matched wild-type males
• enhanced angiotensin-II-mediated cardiac interstitial fibrosis is associated with up-regulation of collagen I and III gene expression and enhanced cardiac transforming growth factor-beta1 and Smad2 activation
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
androgen insensitivity syndrome | DOID:4674 |
OMIM:300068 |
J:85484 | |
obesity | DOID:9970 |
OMIM:601665 |
J:85484 |