Phenotypes Associated with This Genotype

Genotype
MGI:5441753

• Allelic Composition: Tg(LMNA*G608G)HClns/?
• Genetic Background: C57BL/6-Tg(LMNA*G608G)HClns/J

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

mortality/aging

prenatal lethality ( J:107176 )

• fewer homozygotes born than expected

cardiovascular system

abnormal vascular smooth muscle morphology ( J:107176 )

• progressive vascular smooth muscle cell loss starting at 5 momnths of age

• broken elastic fibers, thickened adventitia and medial layers, and proteoglycan and collagen accumulation in large arteries.

• calcification and severe vascular smooth muscle cell loss and extracellular matrix deposition of the large arteries after 12 months of age

abnormal blood pressure regulation ( J:107176 )

• impaired blood pressure regulation with an abnormal response to the vasodilator, sodium nitroprusside

muscle

abnormal vascular smooth muscle morphology ( J:107176 )

• progressive vascular smooth muscle cell loss starting at 5 momnths of age

• broken elastic fibers, thickened adventitia and medial layers, and proteoglycan and collagen accumulation in large arteries.

• calcification and severe vascular smooth muscle cell loss and extracellular matrix deposition of the large arteries after 12 months of age

reproductive system

female infertility ( J:107176 )

• homozygous females are infertile

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
progeria		DOID:3911	OMIM:176670	J:107176