Log In|Sign Up
EN
The T at position 6272 in exon 34 was deleted. An FRT-flanked PGK/gb2-neomycin cassette was inserted upstream of exon 34 and was removed via flp-mediated recombination. The 6272delT mutation results in a premature stop codon eight nucleotides further downstream (p.Phe2091SerfsX4). This is a Hajdu Cheney Syndrome-associated mutation. (J:311038)
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
