ENU mutagenesis induced a T to A transversion at base pair 66,833,880 (v38) on chromosome 4, or base pair 6,070 in the GenBank genomic region NC_000070. The mutation lies in the splice acceptor site of intron 1 of the 3 exon gene, and affects a thymine base 14 nucleotides from the next exon. One possibility, shown below, is that aberrant splicing may result in skipping of the 167 bp exon 2, utilization of the acceptor splice site from intron 2, and splicing of exon 1 to exon 3. Deletion of exon 2 would result in a frame-shift and the coding of one aberrant amino acid followed by a premature stop codon (the second abnormal codon after exon 1). (J:217295)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Semidominant
1
2
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

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PMID
Journal
Year
IF
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