Log In|Sign Up
EN
ENU-induced A to G transition at base pair 44,632,775 (v38) on chromosome 11, or base pair 14,676 in the GenBank genomic region NC_000077. The mutation corresponds to residue 515 in the mRNA sequence NM_001290709 within exon 5 of 16 total exons. The mutation results in a lysine to glutamic acid substitution at position 146 (K146E) in the EBF1 protein. (J:272841)
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
