Log In|Sign Up
EN
A loxP-flanked exon 17 containing an arginine to tryptophan mutation at amino acid 649 and a neomycin selection cassette flanked by FRT sites replaced exon 17. Flp-mediated recombination removed the selection cassette, leaving a mutated exon 17 floxed. The R649W missense mutation is the most common mutation in SHORT syndrome affected individuals. (J:234657)
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
