mortality/aging
• mutants usually die within the first 8 days after birth (88%)
• approximately one third of the mutants die before P4 (35%)
• only occasionally do mutants reach an age of up to 14 days (12%)
|
growth/size/body
• overall body size is reduced by 20% compared with controls
|
• 470 mg per day from P5 until P12 compared with 750 mg per day of wild-type pups
|
• mutants display a deficit in postnatal development form P3 onwards despite normal feeding behaviors
|
homeostasis/metabolism
• liver metabolite, SAH (S-adenosylhomocysteine) and SAM (S-adenosylmethionine), levels are significantly elevated in mutants
|
• the skin temperature of pups separated from their mother drops more rapidly than in littermates
|
• concentrations of adenine nucleotides are decreased in mutants
|
liver/biliary system
• by P4, mutant livers show a homogeneous mixture of micro- and macrovesicular steatosis without any lobular predominance
|
• macrovesicular steatosis begins to develop by P2
|
• microvesicular steatosis is noted in mutants 12 hours after birth
|
pale liver
(
J:81518
)
• at P7 the pale color of the mutant liver is in striking contrast to that of littermate controls
|
respiratory system
• during the first 2 weeks of life, mutants display intermittent periods of apnea (up to 20 seconds) up to two times per hour
|
vision/eye
• eye opening is delayed from P11 to P14
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
steatotic liver disease | DOID:9452 |
OMIM:228100 |
J:81518 |