ENU-mutagenesis induced a T to A transversion at position 3147 in the second nucleotide of intron 2. This mutation causes skipping of exon 2 and results in a frameshift upon splicing of exon 1 to exon 3. A premature stop codon following 27 aberrant amino acids encoded by exon 3 and part of exon 4 is expected to cause nonsense-mediated decay of the transcript. (J:185495) Additional incidental mutations were detected in sequencing for the causative mutation, Ruvbl2M1Btlr, and may be present in stocks carrying this mutation.

Basic Information

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