ENU-induced T to C transition at base pair 165,063,563 (v38) on chromosome 2, or base pair 7,956 in the GenBank genomic region NC_000068 within the donor splice site of intron 5. The effect of the mutation at the cDNA and protein level has not examined, but the mutation is predicted to result in the use of a cryptic site in intron 5. The resulting transcript would have a 34-nucleotide insertion of intron 5, which would cause a frame shifted protein product beginning after amino acid 165 of the protein, which is normally 289 amino acids in length, and premature termination after the inclusion of 13 aberrant amino acids. (J:254828)

Basic Information

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

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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