Phenotypes Associated with This Genotype

Genotype
MGI:2449928

• Allelic Composition: Adk^tm1Bois/Adk^tm1Bois
• Genetic Background: involves: 129P3/JEmsJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Liver comparison of wild-type and Adk^tm1Bois/Adk^tm1Bois mice

mortality/aging

postnatal lethality, complete penetrance ( J:81518 )

• 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

decreased body size ( J:81518 )

• overall body size is reduced by 20% compared with controls

decreased body weight ( J:81518 )

• 470 mg per day from P5 until P12 compared with 750 mg per day of wild-type pups

postnatal growth retardation ( J:81518 )

• mutants display a deficit in postnatal development form P3 onwards despite normal feeding behaviors

homeostasis/metabolism

abnormal homeostasis ( J:81518 )

• liver metabolite, SAH (S-adenosylhomocysteine) and SAM (S-adenosylmethionine), levels are significantly elevated in mutants

abnormal body temperature homeostasis ( J:81518 )

• the skin temperature of pups separated from their mother drops more rapidly than in littermates

abnormal nucleotide metabolism ( J:81518 )

• concentrations of adenine nucleotides are decreased in mutants

liver/biliary system

hepatic steatosis ( J:81518 )

• by P4, mutant livers show a homogeneous mixture of micro- and macrovesicular steatosis without any lobular predominance

macrovesicular hepatic steatosis ( J:81518 )

• macrovesicular steatosis begins to develop by P2

microvesicular hepatic steatosis ( J:81518 )

• 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

apnea ( J:81518 )

• 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

delayed eyelid opening ( J:81518 )

• 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