Phenotypes Associated with This Genotype

Genotype
MGI:4457609

• Allelic Composition: Lmna^tm5Lgf/Lmna^tm5Lgf
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

decreased survivor rate ( J:160705 )

• median survival of males and females is 38.5 weeks and 49.5 weeks, respectively

premature death ( J:160705 )

• all male mice succumb by 44 weeks, and all female mice succumb by 80 weeks of age

cellular

abnormal cell nucleus morphology ( J:160705 )

• nuclei of fibroblasts were misshapen, with blebs and folds

growth/size/body

decreased body weight ( J:160705 )

• body weight of females are slightly but significantly lower than those of wild-type females

cardiovascular system

dilated heart left ventricle ( J:160705 )

• during systole

• phenotype is more severe in males

cardiac fibrosis ( J:160705 )

• significant fibrosis in the papillary muscle of the left ventricle, as judged by a Gomori trichrome stain

• fibrosis is typically mild to moderate

dilated cardiomyopathy ( J:160705 )

• with an increased left ventricular (LV) chamber size during systole and a reduced LV ejection fraction, with a greater severity in males

decreased heart left ventricle muscle contractility ( J:160705 )

• decrease in left ventricular ejection fraction

• decrease is more severe in males

muscle

dilated cardiomyopathy ( J:160705 )

• with an increased left ventricular (LV) chamber size during systole and a reduced LV ejection fraction, with a greater severity in males

decreased heart left ventricle muscle contractility ( J:160705 )

• decrease is more severe in males

• decrease in left ventricular ejection fraction

skeleton

skeleton phenotype ( J:160705 )

N • do not develop osteolytic lesions or spontaneous rib fractures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	progeria	DOID:3911	OMIM:176670	J:160705