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About 8 kb of sequence spanning 3' of intron 1 through exon 4 was replaced with the human LDLR minigene containing exons 2-18 of human sequence. The minigene was shortened by a deletion of two of the three 3' AU-rich elements in exon 18. The mature protein transcribed from the chimeric gene was entirely human protein, due to exon 1 encoding only the signal peptide. (J:67282)
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
