ENU-induced T to A transversion at base pair 128,281,065 (v38) on chromosome 10, or base pair 10,507 in the GenBank genomic region NC_000076 within intron 8 (17 base pairs from exon 9). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in usage of a cryptic site in intron 8. The resulting transcript would have a 15-base pair insertion of intron 8, and would cause a predicted in-frame insertion of five aberrant amino acids after amino acid 261 of the protein. (J:265265)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
3
--

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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