Log In|Sign Up
EN
A single A to T substitution was created at the position equivalent to 1735 of the cDNA. This caused a codon change for amino acid residue 500 from tyrosine to phenylalanine (Y500F) disrupting the PTB domain. In addition, a floxed PGK-neomycin resistance cassette was inserted into intron 11. This cassette was removed from successfully targeted clones by transient transfection with a Cre recombinase. The mutant is transcribed at rates equivalent to those of wild-type as indicated by RT-PCR. (J:86215)
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
