Mouse Genome Informatics
hm
    Lmnatm2.1Gbon/Lmnatm2.1Gbon
involves: 129 * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• start to die by P15 and all are dead by P19

growth/size
• start to lose weight by P12
• apparent by P5
• by P12 mice are about 50% lighter compared to littermate controls

muscle
• lipid droplets remain high in cardiomyocytes at P14 unlike in controls where droplets disappear by P5
• defect in maturation
• decrease in cross-sectional area at P14 in the gastrocnemius muscle
• significant increase in the number of central nuclei at P5, P8 and P14
• however, no signs of inflammation, necrosis, or fibrosis are seen

cardiovascular system
• expression analysis indicates a defect in cardiac maturation
• lipid droplets remain high in cardiomyocytes at P14 unlike in controls where droplets disappear by P5
• heart weight to tibia length ratio is markedly lower at P14 but not at P0

behavior/neurological
• slight delay in walk acquisition compared to littermates
• waddling gait with an increased number of falls apparently due to hindquarter blockade

adipose tissue
• marked reduction or absence of white adipose tissue

cellular
• by 10 days after induction of adipogenic differentiation MEFs fail to accumulate lipid droplets unlike wild-type MEFs

homeostasis/metabolism
• develop progressive hypoglycemia starting at P12
• by P14 blood glucose levels are only about 45% of the level in control littermates
• C2- and C6-acylcarnitine levels are higher

renal/urinary system
• C2- and C6-acylcarnitine levels are higher

Mouse Models of Human Disease
OMIM IDRef(s)
Muscular Dystrophy, Congenital, Lmna-Related 613205 J:180603