Log In|Sign Up
EN
An asparagine to lysine substitution at amino acid 534 (p.N534K) was introduced in exon 12. A loxP-flanked neomycin/STOP cassette that was inserted upstream of exon 11 was removed via flp-mediated recombination. This corresponds to the p.N540K gain-of-function mutation identified in patients with hypochondroplasia. (J:338859)
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
