Log In|Sign Up
EN
A spontaneous 7 base pair deletion of AAGACAG (130041960-130041966 in build GRCm38) in exon 10 results in deletion of lysine codon 513 and threonine 514 and a frameshift and immediate premature termination after arginine 512 (out of 693 amino acids). (J:225940)
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
