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The 164.4 kb human BAC RP11-702H12 containing the entire LMNA gene, as well as the UBQLN4, MAPBPIP, and RAB25 genes was modified to insert the G608G HGPS mutation and a FRT site flanked kanamycin selection cassette into exon 11 of the LMNA gene. The kanamycin selection cassette was removed by transient Flp-recombinase expression. The resulting circular BAC transgene, which contains the G608G mutation in exon 11, and 109 extra nucleotides in intron 10 including an FRT site, EcoRI site, and SacI site, was microinjected into C57BL/6 donor eggs. Founder line H was subsequently established. (J:107176)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
