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EN
ENU-induced C-to-A transversion at base pair 121,207,887 (GRCm38) on chromosome 2, or base pair 82,439 in the GenBank genomic region NC_000068. The mutation corresponds to residue 4,448 in the mRNA sequence NM_001290830 within exon 20 of 27 total exons and residue 4,598 in the mRNA sequence NM_013735 within exon 21 of 28 total exons. The mutation results in an alanine (A) to aspartic acid (D) substitution at position 1440 (p.A1440D) in the protein. (J:254841)
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
