The most frequent mutation found in Hutchinson-Gilford progeria syndrome, a C to T transition, was introduced into exon 11. This mutation does not result in a protein sequence change because both encode a glycine at amino acid position 609 (G609G). Aortas show lamin C and large amounts of progerin but only small amounts of lamin A, indicating that the main product of the allele is progerin. (J:234711)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Single point
--
1
44
4

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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