To emulate the progerin splice variant, 150 bp of the 3' end of exon 11 along with introns 10 and 11 were deleted. A single point mutation (T>A) was also used to create an amino acid substitution of serine for cysteine in the CaaX motif encoded within exon 11. This results in a nonfarnesylated progerin protein. A floxed neo cassette was inserted downstream of exon 12 for selection purposes. (J:141165)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion, 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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