Log In|Sign Up
EN
Nucleotide substitution(s) in exon 4 resulted in the amino acid substitution of methionine for threonine at position 158 (T158M). This mutation affects the DNA binding domain. An EGFP was fused in-frame downstream of the coding sequence in exon 4. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of EGFP. The T158M mutation represents 12% of Rhett Syndrome missense mutations. (J:203745)
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
