Phenotypes associated with this allele

• Allele Symbol: Mdfic^em1Nlh
• Allele Name: endonuclease-mediated mutation 1, Natasha L Harvey
• Allele ID: MGI:7638754
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Mdfic^em1Nlh/Mdfic^em2Nlh	C57BL/6J-Mdfic^em1Nlh/Mdfic^em2Nlh	MGI:7314827

Genotype
MGI:7314827

ht1

• Allelic Composition: Mdfic^em1Nlh/Mdfic^em2Nlh
• Genetic Background: C57BL/6J-Mdfic^em1Nlh/Mdfic^em2Nlh

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

mortality/aging

premature death ( J:326462 )

• mice start dying after birth, with majority of mice dying within 30 days of birth, and all dying by 80 days

• development of decreased activity, hunching, and labored breathing is rapid and results in demise within hours of onset

postnatal lethality, incomplete penetrance ( J:326462 )

• mice start dying after birth

behavior/neurological

hunched posture ( J:326462 )

• mice are hunched immediately before death

hypoactivity ( J:326462 )

• mice appear less active immediately before death

respiratory system

chylothorax ( J:326462 )

• chylothorax is seen postmortem in mice that showed labored breathing

• however, chylothorax is not seen in postnatal mice before they show labored breathing

respiratory distress ( J:326462 )

• mice exhibit labored breathing immediately before death

immune system

abnormal lymph circulation ( J:326462 )

• dye injection to the peritoneal cavity shows retrograde flow from the thoracic duct to the intercostal lymphatics indicating retrograde flow of lymph into the intercostal lymphatics

• however, no leakage or breach in vessel integrity is seen in the mesentery lymphatic vasculature

abnormal lymphatic vessel morphology ( J:326462 )

• lymphatic vasculature within the thoracic wall and diaphragm of mice with chylothorax shows dysmorphic, distended lymphatic vessels with elevated numbers of LYVE1+ macrophages

• lymphatic vessel valves in the mesentery lymphatic vasculature are defective, appearing arrested at an early stage of development

• postnatal mice show enlarged and dysmorphic lymphatic vessels in the thoracic wall

• lymphatic vasculature at E18.5 shows vessels with wider caliber and greater surface area

• valve development is abnormal, with E18.5 mutants showing fewer valves in the mesenteric collecting lymphatic vessels

• the valves that do form are less mature, with the arrest of valve development at the ring-like stage and lower laminin alpha5 deposition in valve territories

cardiovascular system

abnormal lymph circulation ( J:326462 )

• dye injection to the peritoneal cavity shows retrograde flow from the thoracic duct to the intercostal lymphatics indicating retrograde flow of lymph into the intercostal lymphatics

• however, no leakage or breach in vessel integrity is seen in the mesentery lymphatic vasculature

homeostasis/metabolism

chylothorax ( J:326462 )

• chylothorax is seen postmortem in mice that showed labored breathing

• however, chylothorax is not seen in postnatal mice before they show labored breathing

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
central conducting lymphatic anomaly		DOID:0081030	OMIM:617300	J:326462