Log In|Sign Up
EN
Exon 20 and its two flanking introns were replaced by the corresponding human sequence, containing a T to C transition at position 6 of intron 20 (IVS+6T>C). This mutation is the most common observed in patients with familial dysautonomia. Flp-mediated recombination removed the neomycin resistance cassette inserted into intron 20. QRT-PCR confirmed elevated expression of a transcript skipping exon 20 in the liver and brain. (J:198544)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
