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The first thymidine of codon 1002 was changed into a cytosine (CTT>CCT) resulting in a leucine to proline substation at this codon (L1002P) in exon 23 which corresponds to the human L1012P mutation found in patients with mosaic variegated aneuploidy syndrome. A loxP flanked neomycin selection cassette was inserted upstream of exon 23 and was removed via cre-mediated recombination. Western blot confirmed reduced protein expression in mouse embryonic fibroblasts and tissues. (J:293084)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
