Exons 10, 11, and 12 (and the introns between) were replaced with the corresponding cDNA sequence in which the last 150 bp of exon 11 were removed as well as 3 nucleotides of exon 12 that code for the isoleucine in the C-terminal CSIM sequence. A floxed neo cassette was inserted downstream of exon 12. This allele is predicted to produce a non-farnesylated protein because it lacks the farnesylatible isoleucine in the CaaX motif. The absence of A and C isoforms and production of the progerin isoform was confirmed by western blot analysis on liver extracts. (J:167229)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
44
2

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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