ENU-induced T to G transversion at base pair 23,753,215 (v38) on chromosome 11, or base pair 17,756 in the GenBank genomic region NC_000077 within the splice donor site of intron 4. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of cryptic splice site in exon 4 (out of 10 total exons) and the subsequent deletion of 71 base pair in exon 4. As a result of the deletion, there would be an in-frame deletion of 24 amino acids beginning after amino acid 108 of the encoded protein, and termination after the inclusion of two aberrant amino acids. (J:236682)

Basic Information

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