Analysis Tools
mortality/aging
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• viability is reduced but some survive to breed
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• 18 of 40 mutants are alive at weaning (4 weeks)
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nervous system
hydrocephaly
(
J:218
)
|
• variable severity; marked hydroencephaly does not occur with cerebral hernia
|
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• cerebral hernia; most severe herniated brains are not usually accompanied by hydrocephaly
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vision/eye
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• differences found between mutant and wild-type for alpha-,beta-and gamma-crystallins
|
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• some adults with normal sized eyes exhibit opacity of the lens
(J:218)
• cataracts of the nucleus and cortex
(J:268)
|
microphthalmia
(
J:218
)
|
• 75% of mutants display anophthalmia or microphthalmia
• however, orbit size is normal
|
anophthalmia
(
J:218
)
|
• 75% of mutants display anophthalmia or microphthalmia
|
homeostasis/metabolism
aminoaciduria
(
J:12172
)
|
• mutants excrete higher amounts of total amino acids than normal early in life, with excessive excretion peaking at 10-15 days, followed by a decline such that when fully grown, they secrete smaller amounts than wild-type
|
|
• seen in mutants 3-21 days of age but by adulthood, mutants exhibit a significant decrease in protein content compared to controls
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renal/urinary system
aminoaciduria
(
J:12172
)
|
• mutants excrete higher amounts of total amino acids than normal early in life, with excessive excretion peaking at 10-15 days, followed by a decline such that when fully grown, they secrete smaller amounts than wild-type
|
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• seen in mutants 3-21 days of age but by adulthood, mutants exhibit a significant decrease in protein content compared to controls
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• outer surface of the kidneys is always irregular and nodular
|
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• cysts are confined to the cortex
(J:218)
• develops after the first 2 or 3 weeks of postnatal life
(J:12172)
|
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• most glomeruli are dilated in adults
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• PAS stain-positive plugs in tubules appear before polycystic disease
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• some tubules in adults are dilated
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craniofacial
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• most severe skull defect is a wide median separation of the paired frontal and parietal bones
• in less severely affected mice, the parietals may meet in the dorsal midline but the frontals are separated along at least part of their length
|
shortened head
(
J:218
)
|
• most mice have foreshortened heads
|
skeleton
|
• most severe skull defect is a wide median separation of the paired frontal and parietal bones
• in less severely affected mice, the parietals may meet in the dorsal midline but the frontals are separated along at least part of their length
|
growth/size/body
shortened head
(
J:218
)
|
• most mice have foreshortened heads
|
|
• cysts are confined to the cortex
(J:218)
• develops after the first 2 or 3 weeks of postnatal life
(J:12172)
|
