Mice carrying the Lmnatm1Otin allele were crossed with a Cre-deleter mouse to get germline removal of the neomycin resistance cassette. Removal of the neo cassette allows for the expression of the C to T mutation at nucleotide 1824 seen in Hutchinson-Gilford progeria syndrome patients and activates the cryptic splicing donor site leading to accumulation of the truncated form of prelamin A, called progerin. This allele expresses lamin C, lamin A and progerin. (J:177632)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Single point
--
1
44
30

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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