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Phenotypes Associated with This Genotype
Genotype
MGI:5295754
Allelic
Composition
Lmnatm1.1Otin/Lmna+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm1.1Otin mutation (0 available); any Lmna mutation (76 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants exhibit an average lifespan of 242 days (J:177632)

growth/size/body
• mutants start to lose weight at around 8 months of age

homeostasis/metabolism
• 8-fold decrease in plasma ATP concentrations
• 9-fold decrease in plasma pyrophosphate concentrations
• however, no differences in plasma phosphorus or calcium levels are seen
• at 8 months of age, heterozygotes show a decrease in serum glucose concentrations
• 29.5% higher levels of plasma alkaline phosphatase activity than controls

cellular
• MEFs have more misshapen nuclei with nuclear blebs than wild-type MEFs (J:177575)
• mutants show nuclear abnormalities due to progerin accumulation (J:177632)

cardiovascular system
• medial calcification in aortic arch and thoracic aorta at 30-34 weeks of age
• primary cultures of vascular smooth muscle cells from aortic tissue show a lower capacity to inhibit calcium deposition than control cells when incubated in calcifying medium
• aortic vascular smooth cells exhibit impaired capacity to synthesize extracellular pyrophosphate, show lower levels of extracellular ATP and intracellular ATP indicating impaired ATP synthesis, and have a lower COX:CS ratio indicating impaired mitochondrial function

muscle
• primary cultures of vascular smooth muscle cells from aortic tissue show a lower capacity to inhibit calcium deposition than control cells when incubated in calcifying medium
• aortic vascular smooth cells exhibit impaired capacity to synthesize extracellular pyrophosphate, show lower levels of extracellular ATP and intracellular ATP indicating impaired ATP synthesis, and have a lower COX:CS ratio indicating impaired mitochondrial function

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
progeria DOID:3911 OMIM:176670
J:211388


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)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory