mortality/aging
• die by 36 weeks of age, with females surviving a median of 26.7 weeks
|
growth/size/body
weight loss
(
J:206001
)
• body weight decreases gradually after 15 weeks of age
|
• kidney weight is about 1.2-fold higher than in controls
|
behavior/neurological
• mice tuck their hindlimbs to their bodies when lifted by the tail
|
• mice begin to develop a rounded back at 20 weeks of age
|
• mice begin to show slow movements at 20 weeks of age
|
• mice begin to show gait disturbances at 20 weeks of age
|
homeostasis/metabolism
• BUN levels are higher in 20 week old mice
|
• lower urine osmolality from 5 weeks of age onwards
|
albuminuria
(
J:206001
)
• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter
|
• beta2-microglobulin is seen in the urine indicating proximal tubule impairment
|
renal/urinary system
• kidney weight is about 1.2-fold higher than in controls
|
• lower urine osmolality from 5 weeks of age onwards
|
albuminuria
(
J:206001
)
• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter
|
• beta2-microglobulin is seen in the urine indicating proximal tubule impairment
|
• enlarged kidney tubular cells, however Bowman's capsule is normal
|
• urine volume is higher in at 10 and 20 weeks of age; highest urine volume is seen at 15 weeks of age
|
vision/eye
• moderate whitish granular deposits and diffuse posterior capsular cataract are seen in 7 week old mice
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Fabry disease | DOID:14499 |
OMIM:301500 |
J:206001 |