Log In|Sign Up
EN
Sequence encompassing exons 3 and 4 was replaced with a neomycin selection cassette inserted by homologous recombination. In addition to encoding the helix-hairpin-helix motif necessary for enzyme activty, the deleted region included codon 208, encoding a lysine orthologous to human lysine 212 which is a nucleophile that initiates the formation of a Schiff base ES intermediate. RT-PCR confirmed the absence of normal transcript in homozygous mutant mice. (J:78429)
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
