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Phenotypes Associated with This Genotype
Genotype
MGI:5295749
Allelic
Composition
Lmnatm1.1Otin/Lmnatm1.1Otin
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 (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants exhibit an average lifespan of 103 days (J:177632)
• mutants exhibit an average lifespan of 103 days (J:177632)
• mutants exhibit premature aging as indicated by an increase in senescence-associated beta-galactosidase staining in the liver and kidney at 3 months of age (J:177632)
• mutants exhibit premature aging as indicated by an increase in senescence-associated beta-galactosidase staining in the liver and kidney at 3 months of age (J:177632)

growth/size/body
• smaller lower incisors (J:177632)
• smaller lower incisors (J:177632)
• mutants exhibit progressive weight loss after 3 weeks of age (J:177632)
• mutants exhibit progressive weight loss after 3 weeks of age (J:177632)
• mutants show reduced growth rates after 3 weeks of age, with progressive weight loss (J:177632)
• mutants show reduced growth rates after 3 weeks of age, with progressive weight loss (J:177632)

reproductive system

cardiovascular system
• seen in 10 week old mice (J:211388)
• treatment with intraperitoneal injections of pyrophosphate over 9 weeks inhibits aortic calcification (J:211388)
• seen in 10 week old mice (J:211388)
• treatment with intraperitoneal injections of pyrophosphate over 9 weeks inhibits aortic calcification (J:211388)
• mutants exhibit loss of vascular smooth muscle cells in the aortic arch, but not in the medial layer of the thoracic aorta (J:177632)
• mutants exhibit loss of vascular smooth muscle cells in the aortic arch, but not in the medial layer of the thoracic aorta (J:177632)
• blood pressure appears normal but mutants progressively develop bradycardia between 9 and 15 weeks of age (J:177632)
• blood pressure appears normal but mutants progressively develop bradycardia between 9 and 15 weeks of age (J:177632)
• ECG indicates prolonged QRS waves without changes in the PR interval, indicating altered heart ventricular depolarization (J:177632)
• however, no differences in systolic function or diastolic function are seen (J:177632)
• ECG indicates prolonged QRS waves without changes in the PR interval, indicating altered heart ventricular depolarization (J:177632)
• however, no differences in systolic function or diastolic function are seen (J:177632)

cellular
• MEFs have more misshapen nuclei with nuclear blebs than wild-type MEFs (J:177575)
• MEFs have more misshapen nuclei with nuclear blebs than wild-type MEFs (J:177575)
• mutants show nuclear abnormalities due to progerin accumulation (J:177632)
• 81% of cultured fibroblasts at passage 5 contain large and abnormally shaped nuclei (J:177632)
• mutants show nuclear abnormalities due to progerin accumulation (J:177632)
• 81% of cultured fibroblasts at passage 5 contain large and abnormally shaped nuclei (J:177632)
• 81% of cultured fibroblasts at passage 5 contain large and abnormally shaped nuclei with foci highly stained with anti-gammaH2AX antibodies, indicating genotoxic stress (J:177632)
• 81% of cultured fibroblasts at passage 5 contain large and abnormally shaped nuclei with foci highly stained with anti-gammaH2AX antibodies, indicating genotoxic stress (J:177632)

craniofacial
• skulls are reduced in size (J:177632)
• skulls are reduced in size (J:177632)
• smaller lower incisors (J:177632)
• smaller lower incisors (J:177632)

adipose tissue
• older mutants exhibit a generalized loss of principal fat deposits, with a loss of the subcutaneous fat layer (J:177632)
• older mutants exhibit a generalized loss of principal fat deposits, with a loss of the subcutaneous fat layer (J:177632)

homeostasis/metabolism
• mutants show a decrease in serum levels of insulin-like factor 1 (J:177632)
• mutants show a decrease in serum levels of insulin-like factor 1 (J:177632)
• at 2 months of age, mutants show a decrease in serum glucose concentrations that leads to extreme hypoglycemia by 3 months of age (J:177632)
• at 2 months of age, mutants show a decrease in serum glucose concentrations that leads to extreme hypoglycemia by 3 months of age (J:177632)

immune system
• thymus exhibits a marked involution relative to wild-type mice, even after accounting for body size differences (J:177632)
• thymus exhibits a marked involution relative to wild-type mice, even after accounting for body size differences (J:177632)
• spleen exhibits a marked involution relative to wild-type mice, even after accounting for body size differences (J:177632)
• spleen exhibits a marked involution relative to wild-type mice, even after accounting for body size differences (J:177632)

integument
• older mutants exhibit a generalized loss of principal fat deposits, with a loss of the subcutaneous fat layer (J:177632)
• older mutants exhibit a generalized loss of principal fat deposits, with a loss of the subcutaneous fat layer (J:177632)
• older mutants exhibit attrition of hair follicles (J:177632)
• older mutants exhibit attrition of hair follicles (J:177632)

behavior/neurological

muscle
• mutants exhibit loss of vascular smooth muscle cells in the aortic arch, but not in the medial layer of the thoracic aorta (J:177632)
• mutants exhibit loss of vascular smooth muscle cells in the aortic arch, but not in the medial layer of the thoracic aorta (J:177632)

hematopoietic system
• thymus exhibits a marked involution relative to wild-type mice, even after accounting for body size differences (J:177632)
• thymus exhibits a marked involution relative to wild-type mice, even after accounting for body size differences (J:177632)
• spleen exhibits a marked involution relative to wild-type mice, even after accounting for body size differences (J:177632)
• spleen exhibits a marked involution relative to wild-type mice, even after accounting for body size differences (J:177632)

skeleton
• skulls are reduced in size (J:177632)
• skulls are reduced in size (J:177632)
• mutants develop cerviocothoracic lordokyphosis (abnormal posture and curvature of the spine) (J:177632)
• mutants develop cerviocothoracic lordokyphosis (abnormal posture and curvature of the spine) (J:177632)
• tibias exhibit increased porosity (J:177632)
• tibias exhibit increased porosity (J:177632)
• tibias exhibit reduced bone density (J:177632)
• tibias exhibit reduced bone density (J:177632)
• bone volume of tibias is decreased (J:177632)
• bone volume of tibias is decreased (J:177632)
• tibias exhibit reduced cortical thickness (J:177632)
• tibias exhibit reduced cortical thickness (J:177632)

endocrine/exocrine glands
• thymus exhibits a marked involution relative to wild-type mice, even after accounting for body size differences (J:177632)
• thymus exhibits a marked involution relative to wild-type mice, even after accounting for body size differences (J:177632)

Mouse Models of Human Disease
OMIM ID Ref(s)
Hutchinson-Gilford Progeria Syndrome; HGPS 176670 J:177575 , J:177632 , J:211388


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