Phenotypes Associated with This Genotype

Genotype
MGI:3043017

• Allelic Composition: Cyp1a2^tm1Gonz/Cyp1a2^tm1Gonz
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:25724 )

• most homozygous mutant mice died within 15-45 min after birth due to respiratory distress

postnatal lethality ( J:25724 )

• the postnatal survival rate of mutant mice was reduced to 3.2% vs 25% in wild-type

• adult survivors displayed no obvious abnormalities and were fertile

behavior/neurological

absent gastric milk in neonates ( J:25724 )

• mutant newborns never fed prior to death and did not contain milk in their stomachs

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:25724 )

N • the thyroid of newborn mutants appeared histologically normal

homeostasis/metabolism

cyanosis ( J:25724 )

decreased body temperature ( J:25724 )

• newborn homozygotes displayed hypothermia

liver/biliary system

liver/biliary system phenotype ( J:25724 )

N • the liver and extrahepatic bile ducts appeared morphologically normal relative to wild-type

N • mutant newborns showed normal plasma bilirubin levels relative to wild-type

N • no bilirubin deposits were found in the mutant liver, kidney or brain

respiratory system

abnormal lung development ( J:25724 )

• at birth, mutant lungs failed to clear the amniotic fluid and inflate

• mutant lungs were cytologically and morphologically normal but appeared developmentally immature

abnormal type II pneumocyte morphology ( J:25724 )

• mutant type II alveolar cells displayed decreased and diffuse expression of surfactant-associated proteins

abnormal pulmonary alveolar duct morphology ( J:25724 )

• the alveolar compartment failed to expand

• macrophages and debris were detected in the centroacinar spaces

atelectasis ( J:25724 )

• mutant lungs exhibited atelectasis of variable intensity

respiratory distress ( J:25724 )

• mutant newborns displayed arrhythmic breathing and chest spasms; however, no hyaline mebranes were observed

abnormal surfactant secretion ( J:25724 )

• decreased production and expression of surfactant proteins is decreased