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Phenotypes Associated with This Genotype
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm2.1Gbon mutation (0 available); any Lmna mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• start to die by P15 and all are dead by P19

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

• 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

• 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

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

• 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
DO ID OMIM ID(s) Ref(s)
congenital muscular dystrophy due to LMNA mutation DOID:0110640 OMIM:613205

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.09
The Jackson Laboratory