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Phenotypes Associated with This Genotype
involves: 129P3/JEmsJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adktm1Bois mutation (0 available); any Adk mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Liver comparison of wild-type and Adktm1Bois/Adktm1Bois mice

• 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%)

• 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

• 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
• 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

• eye opening is delayed from P11 to P14

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
fatty liver disease DOID:9452 OMIM:228100

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory