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EN
ENU-induced G to T transversion at base pair 20,572,446 (v38) on chromosome 13, or base pair 481,940 in the GenBank genomic region NC_000079 encoding Elmo1. The mutation corresponds to residue 2,041 in the mRNA sequence NM_080288 within exon 18 of 22 total exons. The mutation results in an arginine to leucine substitution at position 568 (R568L) in the ELMO1 protein. (J:271969)
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
