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EN
ENU-induced A to T transversion at base pair 66,859,488 (v38) on chromosome 18, or base pair 1,000 in the GenBank genomic region NC_000084 for the gene. The mutation corresponds to residue 1000 in the mRNA sequence NM_016977 within exon 1 of 1 total exons. The mutation results in an isoleucine (I) to phenylalanine (F) substitution at position 185 (I185F) in the protein. (J:255207)
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
