ENU-induced T to A transversion at base pair 44,990,504 (v38) on chromosome 11, or base pair 372,405 in the GenBank genomic region NC_000077 within intron 11 (12 base pairs from exon 12. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in intron 11, resulting in a 31-base pair insertion of intron 11. The insertion would cause a frame-shifted protein product beginning after amino acid 376 of the protein and premature termination after the inclusion of 14 aberrant amino acids. (J:265160)

Basic Information

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