Phenotypes Associated with This Genotype

Genotype
MGI:2681522

• Allelic Composition: Ar^tm1Ska/Y; Tg(CMV-cre)1Ipc/?
• Genetic Background: involves: C57BL/6 * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

adipose tissue

increased white adipose tissue amount ( J:85484 )

• 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

absent prostate gland ( J:85484 )

♂

absent seminal vesicle ( J:85484 )

♂

cryptorchism ( J:85484 )

♂ • inguinal testes

testis degeneration ( J:85484 )

♂ • small degenerating testes

growth/size/body

abnormal body weight ( J:85484 )

• 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

obese ( J:85484 )

♂ • by 30 weeks of age males are obese

postnatal growth retardation ( J:85484 )

♂ • growth retardation in males through 10 weeks of age

renal/urinary system

abnormal penis morphology ( J:85484 )

♂ • clitoris-like phallus instead of a penis and scrotum

reproductive system

absent prostate gland ( J:85484 )

♂

absent seminal vesicle ( J:85484 )

♂

cryptorchism ( J:85484 )

♂ • inguinal testes

testis degeneration ( J:85484 )

♂ • small degenerating testes

abnormal penis morphology ( J:85484 )

♂ • clitoris-like phallus instead of a penis and scrotum

blind vagina ( J:85484 )

♀ • vagina with a blind end

arrest of spermatogenesis ( J:85484 )

♂

absent epididymis ( J:85484 )

♂

absent vas deferens ( J:85484 )

♂

secondary sex reversal ( J:85484 )

• 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

abnormal reproductive system physiology ( J:85484 )

♂ • lower levels of androgens

♂ • estradiol levels typical for a male

cardiovascular system

abnormal myocardial fiber morphology ( J:101049 )

♂ • in response to angiotensin-II stimulation, male homozygotes show a smaller increase in the cross-sectional area of cardiomyocytes relative to wild-type males

decreased myocardial fiber size ( J:101049 )

♂ • 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

decreased heart weight ( J:101049 )

♂ • 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

abnormal heart left ventricle morphology ( J:101049 )

♂ • 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

decreased heart left ventricle wall thickness ( J:101049 )

♂ • 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

cardiac interstitial fibrosis ( J:101049 )

♂ • 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

decreased heart left ventricle muscle contractility ( J:101049 )

♂ • 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

abnormal myocardial fiber morphology ( J:101049 )

♂ • in response to angiotensin-II stimulation, male homozygotes show a smaller increase in the cross-sectional area of cardiomyocytes relative to wild-type males

decreased myocardial fiber size ( J:101049 )

♂ • after 6 weeks of age, male homozygotes show a significantly reduced cross-sectional area of cardiomyocytes in LV tissues relative to wild-type males

decreased heart left ventricle muscle contractility ( J:101049 )

♂ • 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

cardiac interstitial fibrosis ( J:101049 )

♂ • 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