Allele/Variant

Ern2M2Btlr

Species
Mus musculus
Symbol
Ern2M2Btlr
Category
allele
Allele of gene
Ern2
Transgenic Constructs
None
Synonyms
  • Ernie2
Description
ENU-induced T to C transition at base pair 122,180,862 (v38) on chromosome 7, or base pair 5,365 in the GenBank genomic region NC_000073 within the donor splice site of intron 7. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to not result in disruption of the splice donor site; native splicing sites might be used. In the event that the mutation affects splicing, the most likely aberrant splicing result will be skipping of the 102-base pair exon 7 (out of 22 total exons (shown below), resulting in an in-frame deletion of 34 amino acids beginning after amino acid 161 of the protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations