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EN
ENU-induced C to G transversion at base pair 20,600,212 (v38) on chromosome 13, or base pair 509,706 in the GenBank genomic region NC_000079 encoding Elmo1. The mutation corresponds to residue 2,276 in the mRNA sequence NM_080288 within exon 21 of 22 total exons. The mutation results in substitution of tyrosine 646 to a premature stop codon (Y646*) in the ELMO1 protein. (J:265232)
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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References Literature
Title
PMID
Journal
Year
IF
