Analysis Tools
mortality/aging
|
• between P15 and P30
|
growth/size/body
|
• after 1 week of age
(J:23783)
• grow at a normal rate for 6 days after birth, then cease growing by P8 and do not gain weight from P8 to P14
(J:27732)
|
nervous system
|
• reduction in retina thickness is attributable almost entirely to a decrease in photoreceptor length
|
|
• inner segments fail to increase in length at 3-4 weeks after birth are about 50% shorter at P25
|
|
• outer segments fail to increase in length at 3-4 weeks after birth are about 50% shorter at P25, however they still express rhodopsin
|
|
• abnormal rod photoreceptor synapses
|
|
• unbranched end plate and absence of junctional folds at neuromuscular synapse
|
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• abnormal Schwann cell processes, absence of active zones and abnormal distribution of synaptic vesicles at neuromuscular synapses
|
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• altered miniature endplate potential frequency
|
renal/urinary system
|
• urinary protein increased approximately 100-fold between P2 and P15
(J:23783)
• develop massive proteinuria due to failure of the glomerular filtration barrier
(J:27732)
|
albuminuria
(
J:27732
)
|
• albumin is the major protein component of the proteinuria
|
|
• the foot processes of visceral epithelial cells are frequently fused
|
|
• glomeruli form in normal numbers and kidneys appear normal, however the renal glomerular basement membrane occasionally shows thickening and outpocketing
• the glomerular basement membrane remains rich in Lamb1, indicating a compensatory response for lack of Lamb2
|
|
• occasional thickening
|
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• failure of the glomerular filtration barrier
|
homeostasis/metabolism
|
• urinary protein increased approximately 100-fold between P2 and P15
(J:23783)
• develop massive proteinuria due to failure of the glomerular filtration barrier
(J:27732)
|
albuminuria
(
J:27732
)
|
• albumin is the major protein component of the proteinuria
|
immune system
behavior/neurological
vision/eye
|
• exhibit about twice the amount of programmed cell death at P15, however still exhibit the basic developmental trend of a decrease in dying cells with age
|
|
• outer retina contains aberrant processes in the interphotoreceptor matrix
|
|
• reduction in retina thickness is attributable almost entirely to a decrease in photoreceptor length
|
|
• inner segments fail to increase in length at 3-4 weeks after birth are about 50% shorter at P25
|
|
• outer segments fail to increase in length at 3-4 weeks after birth are about 50% shorter at P25, however they still express rhodopsin
|
|
• abnormal rod photoreceptor synapses
|
|
• the outer plexiform layer is disrupted as only 7% of observed rod invaginating synapses appear normal, whereas the inner plexiform layer is undisturbed
• the outer plexiform layers rarely contain fully formed triads and instead exhibit a variety of malformations
• tirads and dyads (relatively mature synapses) account for only about 55% of the ribbon synapses
• most conspicuous malformation is floating ribbons, fully assembled ribbon complexes with associated synaptic vesicles that are unapposed to any postsynaptic element
|
|
• reduction in thickness of the retina is first noticeable at P13
|
|
• abnormal electroretinograms; amplitude of the b-wave and slope of the b-wave intensity-response function are both decreased
• the b-wave is flatter and approaches a linear function, rather than the exponential shape of the control, indicating that photoreceptor to bipolar transmission is not as effective
|
cellular
|
• exhibit about twice the amount of programmed cell death at P15, however still exhibit the basic developmental trend of a decrease in dying cells with age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| nephrosis | DOID:2527 | J:27732 | ||
| Pierson syndrome | DOID:0060852 |
OMIM:609049 |
J:106005 | |
