Phenotypes Associated with This Genotype

Genotype
MGI:3701800

• Allelic Composition: Ptges3^{Gt(RST271)Byg}/Ptges3^{Gt(RST271)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:117591 )

• no viable homozygous offspring are identified, but dissections of fetuses on E18.5 show a normal Mendelian distribution of genotypes

• newborns die within minutes of birth

behavior/neurological

lethargy ( J:117591 )

• newborns seem lethargic

respiratory system

impaired lung alveolus development ( J:117591 )

• presumptive terminal alveoli show abnormal development or expansion, with reduced relative percentages of airways vs parenchyma in mutant lungs

decreased type II pneumocyte number ( J:117591 )

• there are decreased numbers of cells containing lamellar bodies which contain surfactant and lipids

small lung ( J:117591 )

• lungs are compacted

atelectasis ( J:117591 )

• lungs of dead pups are not aerated and sink when placed in water

pale lung ( J:117591 )

• lungs of homozygotes are pale

abnormal breathing pattern ( J:117591 )

• newborns do not make any breathing movements after birth although they initially respond to physical stimuli with movement

abnormal surfactant secretion ( J:117591 )

• quantity of surfactants released into lung airspace is reduced in mutants

homeostasis/metabolism

impaired skin barrier function ( J:117591 )

• mutants show incomplete barrier function under chin, and around ears and paws, shown by a dye uptake experiment

integument

impaired skin barrier function ( J:117591 )

• mutants show incomplete barrier function under chin, and around ears and paws, shown by a dye uptake experiment

abnormal epidermis stratum corneum morphology ( J:117591 )

• impaired stratum corneum formation is observed in mutant epidermis

abnormal skin appearance ( J:117591 )

• some neonates and E18.5 mice have a severe skin phenotype characterized by shiny, fragile, sticky, and easily removable skin

shiny skin ( J:117591 )

• some newborns have shiny skin