ENU-induced A to G transition at base pair 15,654,817 (v38) on chromosome 16, or base pair 17,364 in the GenBank genomic region NC_000082 within the splice acceptor site on intron 8. The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in the use of a cryptic splice site in intron 8. The resulting transcript would have a 3-base pair insertion of intron 8, leading to an in-frame protein product beginning after amino acid 259 in encoded protein, which is normally 4,128 amino acids long. (J:255224)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Semidominant
1
2
--

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

References Literature

Title
PMID
Journal
Year
IF
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