Ern2^M2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ern2^M2Btlr
• Name: endoplasmic reticulum to nucleus signalling 2; mutation 2, Bruce Beutler
• MGI ID: MGI:5789538
• Synonyms: Ernie2
• Gene: Ern2 Location: Chr7:121769116-121785430 bp, - strand Genetic Position: Chr7, 65.53 cM
• Alliance: Ern2^M2Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: 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. (J:234237)
• Inheritance: Semidominant

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ern2 Mutation: 41 strains or lines available

References

• Original: J:234237 Turer E, et al., Mutagenetix entry for Ernie2. MGI Direct Data Submission. 2016
• All: 1 reference(s)