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Phenotypes Associated with This Genotype
Genotype
MGI:5306920
Allelic
Composition
Lmnatm2.1Gbon/Lmnatm2.1Gbon
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm2.1Gbon mutation (0 available); any Lmna mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• start to die by P15 and all are dead by P19 (J:180603)
• start to die by P15 and all are dead by P19 (J:180603)

growth/size/body
• start to lose weight by P12 (J:180603)
• start to lose weight by P12 (J:180603)
• apparent by P5 (J:180603)
• apparent by P5 (J:180603)
• by P12 mice are about 50% lighter compared to littermate controls (J:180603)
• by P12 mice are about 50% lighter compared to littermate controls (J:180603)

muscle
• lipid droplets remain high in cardiomyocytes at P14 unlike in controls where droplets disappear by P5 (J:180603)
• lipid droplets remain high in cardiomyocytes at P14 unlike in controls where droplets disappear by P5 (J:180603)
• defect in maturation (J:180603)
• defect in maturation (J:180603)
• decrease in cross-sectional area at P14 in the gastrocnemius muscle (J:180603)
• decrease in cross-sectional area at P14 in the gastrocnemius muscle (J:180603)
• significant increase in the number of central nuclei at P5, P8 and P14 (J:180603)
• however, no signs of inflammation, necrosis, or fibrosis are seen (J:180603)
• significant increase in the number of central nuclei at P5, P8 and P14 (J:180603)
• however, no signs of inflammation, necrosis, or fibrosis are seen (J:180603)

cardiovascular system
• expression analysis indicates a defect in cardiac maturation (J:180603)
• expression analysis indicates a defect in cardiac maturation (J:180603)
• lipid droplets remain high in cardiomyocytes at P14 unlike in controls where droplets disappear by P5 (J:180603)
• lipid droplets remain high in cardiomyocytes at P14 unlike in controls where droplets disappear by P5 (J:180603)
• heart weight to tibia length ratio is markedly lower at P14 but not at P0 (J:180603)
• heart weight to tibia length ratio is markedly lower at P14 but not at P0 (J:180603)

behavior/neurological
• slight delay in walk acquisition compared to littermates (J:180603)
• slight delay in walk acquisition compared to littermates (J:180603)
• waddling gait with an increased number of falls apparently due to hindquarter blockade (J:180603)
• waddling gait with an increased number of falls apparently due to hindquarter blockade (J:180603)

adipose tissue
• marked reduction or absence of white adipose tissue (J:180603)
• marked reduction or absence of white adipose tissue (J:180603)

cellular
• by 10 days after induction of adipogenic differentiation MEFs fail to accumulate lipid droplets unlike wild-type MEFs (J:180603)
• by 10 days after induction of adipogenic differentiation MEFs fail to accumulate lipid droplets unlike wild-type MEFs (J:180603)

homeostasis/metabolism
• develop progressive hypoglycemia starting at P12 (J:180603)
• by P14 blood glucose levels are only about 45% of the level in control littermates (J:180603)
• develop progressive hypoglycemia starting at P12 (J:180603)
• by P14 blood glucose levels are only about 45% of the level in control littermates (J:180603)
• C2- and C6-acylcarnitine levels are higher (J:180603)
• C2- and C6-acylcarnitine levels are higher (J:180603)

renal/urinary system
• C2- and C6-acylcarnitine levels are higher (J:180603)
• C2- and C6-acylcarnitine levels are higher (J:180603)

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


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
02/02/2016
MGI 6.02
The Jackson Laboratory