About   Help   FAQ
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 (82 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

growth/size/body
• 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
• lipid droplets remain high in cardiomyocytes at P14 unlike in controls where droplets disappear by P5
• expression analysis indicates a defect in cardiac maturation
• 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
DO ID OMIM ID(s) Ref(s)
congenital muscular dystrophy due to LMNA mutation DOID:0110640 OMIM:613205
J:180603


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory