mortality/aging
• females become ill and begin to die at 8 weeks of age with a median survival age of 39 weeks; however, some survive to 50 weeks of age
|
renal/urinary system
• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 78% of females after 9 weeks of age
|
• in older, visibly ill mice, kidneys appear pale and dull and are pockmarked
• the appearance of kidney abnormalities is delayed relative to hemizygous mutant males
|
• abnormalities similar to those in males are seen but at later times
• at 17 weeks of age some glomeruli develop focal areas of lamellation and other diffuse changes with widespread abnormalities seen at 30 weeks of age
|
• abnormalities similar to those in males are seen but at later times
|
pale kidney
(
J:102306
)
• in older, visibly ill mice, kidneys appear pale
|
homeostasis/metabolism
• urine concentrations of protein greater than 10 mg/mg creatinine are seen in 78% of females after 9 weeks of age
|
vision/eye
• lenses strain significantly more than wild-type lenses in the anterior-posterior direction (along their thickness but not in the equatorial direction) in osmotic swelling experiments indicating increased distensibility of lens capsule
|
• lenses strain significantly more than wild-type lenses in the anterior-posterior direction (along their thickness but not in the equatorial direction) in osmotic swelling experiments indicating increased distensibility of lens capsule
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
X-linked Alport syndrome | DOID:0110034 |
OMIM:301050 |
J:102306 , J:210414 |