Log In|Sign Up
EN
ENU mutagenesis induced an A to T point mutation that results in the amino acid substitution of leucine for histidine at position 794 (H794L), reduced expression of the protein is found in platelets from homozygotes but not heterozygotes, and Western blots fail to detect this protein in reticulocytes or mature red blood cells. (J:221899, J:301035)
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
