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EN
ENU-induced T to C transition at base pair 14,891,303 (v38) on chromosome 1, or base pair 27,712 in the GenBank genomic region NC_000067 within the donor splice site of intron 15. The mutation is predicted to result in skipping of the 94-nucleotide exon 15 (out of 27 total exons), resulting in a frame-shifted protein product beginning after amino acid 605, and termination after the inclusion of two aberrant amino acids. (J:262266)
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
