Phenotypes associated with this allele

• Allele Symbol: Cebpa^tm1Kgx
• Allele Name: targeted mutation 1, Kleanthis G Xanthopoulos
• Allele ID: MGI:2177068
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cebpa^tm1Kgx/Cebpa^tm1Kgx	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2177074

Genotype
MGI:2177074

hm1

• Allelic Composition: Cebpa^tm1Kgx/Cebpa^tm1Kgx
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

Abnormal liver and lung morphology in Cebpa^tm1Kgx/Cebpa^tm1Kgx mice

mortality/aging

neonatal lethality, incomplete penetrance ( J:35795 )

• homozygotes begin to runt and die shortly after birth

• ~20% of homozygotes die consistently at birth or within 30 min postpartum while the remaining ones survive only for a period of 7-10 hrs

postnatal lethality, incomplete penetrance ( J:35795 )

• less than 1% of homozygotes are able to survive for up to 4 weeks of age

growth/size/body

decreased birth weight ( J:35795 )

• at birth, homozygotes weigh 10% less than wild-type littermates

decreased body size ( J:35795 )

• at 2 weeks of age, rare survivors (<1%) exhibit a ~50% reduction in body size relative to wild-type mice

postnatal growth retardation ( J:35795 )

• rare survivors (<1%) exhibit severe growth retardation relative to wild-type mice

slow postnatal weight gain ( J:35795 )

• by 7-10 hrs, wild-type pups have increased their body weight by 15-20% whereas homozygotes have not gained any weight at all

liver/biliary system

abnormal liver morphology ( J:35795 )

• at birth or at 7-10 hrs postpartum, homozygotes exhibit abnormal liver architecture with acinar formation and a significantly increased number of biliary canaliculi

• abnormal architecture is suggestive of either regenerating liver or pseudoglandular hepatocellular carcinoma

decreased liver glycogen level ( J:35795 )

• at birth and 10 hrs postpartum, mutant livers exhibit significantly reduced glycogen levels

abnormal bile canaliculus morphology ( J:35795 )

• at birth or at 7-10 hrs postpartum, homozygotes exhibit dilated bile canaliculi

• however, no choleostasis or bile thrombi are detected

abnormal hepatocyte morphology ( J:35795 )

• at birth or at 7-10 hrs postpartum, mutant hepatocytes appear to have a smaller cytoplasm/nucleus ratio

• a substantial portion of mutant hepatocytes are in the G1/S phase of the cell cycle

respiratory system

abnormal lung development ( J:35795 )

• all newborn homozygotes exhibit abnormal pulmonary development, with histologic evidence of delayed maturation of type II epithelial cells

impaired lung alveolus development ( J:35795 )

• all newborn homozygotes exhibit primitive-looking lungs with bronchiolization of the alveoli

abnormal lung interstitium morphology ( J:35795 )

• the lungs of newborn homozygotes display interstitial thickening

abnormal pulmonary alveolus morphology ( J:35795 )

• the lungs of newborm homozygotes display a reduction in alveolar airspace

abnormal type II pneumocyte morphology ( J:35795 )

• maturation of type II epithelial cells is delayed

increased type II pneumocyte number ( J:35795 )

• all newborn homozygotes exhibit hyperproliferation of type II pneumocytes

respiratory distress ( J:35795 )

• moribund homozygotes exhibit respiratory problems

respiratory failure ( J:35795 )

• ~20% of homozygotes die within 20-30 min after birth, apparently from respiratory failure

homeostasis/metabolism

abnormal glucose homeostasis ( J:35795 )

hypoglycemia ( J:35795 )

• homozygous pups exhibit low glucose levels (0.1-0.2 mM) within 1 hr postpartum but survive for an additional 6-10 hrs

decreased liver glycogen level ( J:35795 )

• at birth and 10 hrs postpartum, mutant livers exhibit significantly reduced glycogen levels

abnormal lipid homeostasis ( J:35795 , J:89611 )

• newborn homozygotes show reduced accumulation of lipids in brown adipose tissue (J:35795)

• at E18.5, homozygotes display significantly reduced accumulation of lipids in axillary subcutaneous white adipose tissue; however, cell numbers and the proliferative activity in WAT remain normal (J:89611)

adipose tissue

decreased brown adipose tissue amount ( J:35795 )

• newborn homozygotes show significantly reduced lipid accumulation in brown adipose tissue; however, overall BAT morphology remains unaffected

decreased white adipose tissue amount ( J:89611 )

• at E18.5, homozygotes exhibit significantly reduced accumulation of lipids in subcutaneous WAT

behavior/neurological

lethargy ( J:35795 )

• after 7-10 hrs, severely hypoglycemic pups exhibit lethargy and shivering

absent gastric milk in neonates ( J:35795 , J:35795 )

• although apparently normal at birth, most homozygotes are unable to start feeding probably due to lack of energy (J:35795)

• those that start feeding, fail to survive beyond 20 hrs after birth, with no milk in their stomachs (J:35795)

reproductive system

increased litter size ( J:35795 )

• curiously, homozygotes dying at birth (~20%) are born in large litters (9.4 1.6 pups)

integument

flaky skin ( J:35795 )

• rare survivors (<1%) exhibit flaking in large areas of the body before fur outgrowth