renal/urinary system
• model for mechanisms of progressive noninflammatory renal disease
|
• disorganization, swelling, and fusion of the foot processes
|
• condition is progressive and by 6 months of age most glomeruli show advanced sclerosis
|
kidney failure
(
J:1780
)
• results from progressive glomerulosclerosis
|
cardiovascular system
enlarged heart
(
J:1780
)
hypertension
(
J:1780
)
• increased systolic pressure by 3 months of age
|
pigmentation
• mosaicism for pigmented and unpigmented areas is observed a few days after birth
|
hematopoietic system
• before one year of age counts are normal
• at 68 weeks of age the leukocyte count is significanlty decreased with a slight decrease in lymphocytes and increase in neutrophils
|
growth/size/body
enlarged heart
(
J:1780
)
• mutants at all ages are smaller than age and sex-matched controls
|
immune system
• before one year of age counts are normal
• at 68 weeks of age the leukocyte count is significanlty decreased with a slight decrease in lymphocytes and increase in neutrophils
|
integument
• patchy absence of hair throughout life
• pigmented and unpigmented areas observed soon after birth correspond to future areas of abnormal and normal hair growth respectively
|
• follicles may not produce hairs or hairs may not erupt
• keratin plugs follicles
• abnormal follicles are larger than normal
|
• reduced numbers of normal follicles can be detected as early as E14
|
• mosaicism for pigmented and unpigmented areas is observed a few days after birth
|
muscle