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EN
ENU-induced A to G transition at base pair 46,338,217 (GRCm38) on chromosome 11, or base pair 51,299 in the GenBank genomic region NC_000077. The mutation corresponds to residue 1,240 in the mRNA sequence NM_001281965, within 12 of 17 exons. The mutation results in a phenylalanine to leucine substitution at position 379 (F379L) in the protein (isoform 1). (J:236673)
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
