Hutchinson-Gilford Progeria Syndrome Model
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Hutchinson–Gilford Progeria Syndrome (HGPS), or progeria, is an exceedingly rare genetic disorder marked by accelerated aging. Affected individuals usually die prematurely around 14-15 years old, mainly due to cardiovascular complications. Caused by a spontaneous autosomal dominant point mutation in the LMNA gene encoding the lamin A and C proteins, this mutation generates an abnormally spliced lamin A protein, progerin. Progerin accumulates beneath the nuclear lamina and activates downstream effectors, disrupting cellular morphology and physiology. This results in a systemic disorder that mainly impacts the cardiovascular system, bones, skin, and overall growth.
● Genetically Engineered HGPS Mouse Model
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Strain No.
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Strain Name | Strain Type | Description |
|---|---|---|---|
| T059801 | hLMNA-c.C1824T | Point mutation | Progerin expression is detected in homozygous hLMNA-c.C1824T mice. These mice show impaired survival, decreased body weight and reduced organ weight/body weight ratios except for the heart and kidneys |