Log In|Sign Up
EN
The gene was truncated by replacement of exon 8 sequences encoding the distal half of the cytoplasmic domain with a neomycin resistance cassette. A tyrosine to phenylalanine substitution at residue 343 (Y343F) was also introduced. Expression of the mutant allele was confirmed by RT-PCR analysis of bone marrow RNA from homozygous mutant animals. Sequence analysis of RT-PCR products verified the presence of the Y343F amino acid substitution. (J:70036)
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
