Phenotypes Associated with This Genotype

Genotype
MGI:3619005

• Allelic Composition: Elk3^tm1Wlyk/Elk3^tm1Wlyk
• Genetic Background: either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)

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

mortality/aging

premature death ( J:71816 )

• homozygotes begin to die within a few weeks after birth

• Background Sensitivity: homozygotes display a higher death rate on a 129/Sv background, with ~80% dying within 6 weeks

postnatal lethality, incomplete penetrance ( J:71816 )

• homozygotes display a sharp decline in postnatal survival during the first 3 weeks after birth

• survival can extended for a few days by draining the chylous effusion by thoracocentesis

respiratory system

chylothorax ( J:71816 )

• homozygotes with respiratory distress exhibit congenital chylothorax

abnormal pleura morphology ( J:71816 )

• mutant pleural tissues are filled by chylous effusion and lungs become compressed

respiratory distress ( J:71816 )

• homozygotes typically exhibit signs of respiratory distress at P6 and die 2 days later

respiratory failure ( J:71816 )

• homozygotes die from respiratory failure due to compression of lungs by chyle

cardiovascular system

abnormal cardiovascular system physiology ( J:71816 )

abnormal blood vessel physiology ( J:71816 )

• homozygotes exhibit upregulation of Egr1 (an immediate early gene implicated in vascular stenosis) in restricted parts of the thoracic vasculature, in the atrial wall of the heart at E16.5, in pulmonary arteries at E18.5 and in lung arteries after birth

• Egr1 dysfunction may be associated with obstructions that ultimately affect the lymphatics

immune system

lymphangiectasis ( J:71816 )

• homozygotes with a developing chylothorax show extremely dilated thoracic lymphatic vessels while pericardial and chest skin lymphatic vessels remain unaffected

• notably, dilated thoracic lymphatics are observed as early as E16.5, prior to the onset of respiratory distress and chylothorax

• no signs of edema or inflammation surrounding the lymphatics are observed

behavior/neurological

decreased locomotor activity ( J:71816 )

• homozygotes become physically inactive prior to death

homeostasis/metabolism

chylothorax ( J:71816 )

• homozygotes with respiratory distress exhibit congenital chylothorax

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital chylothorax		DOID:0060646	OMIM:603523	J:71816