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EN
ENU-induced A to T transversion at base pair 44,972,908 (v38) on chromosome 11, or base pair 354,809 in the GenBank genomic region NC_000077 encoding Ebf1. The mutation corresponds to residue 1,163 in the mRNA sequence NM_001290709 within exon 11 of 16 total exons. The mutation results in substitution of lysine 362 to a premature stop codon (K362*) in variant 1 of the EBF1 protein. (J:265157)
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：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
