ENU mutagenesis induced a T to C transition at base pair 65,462,915 (v38) on chromosome 18, or base pair 31,947 in the NC_000084 GenBank genomic region within the donor splice site of intron 10 (2 base pairs from exon 10). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 178-base pair exon 10 (out of 16 total exons), resulting in a frame-shift and coding of 13 aberrant amino acids followed by a premature stop codon within exon 11 (after amino acid 418). (J:224672)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
--

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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