Ern2^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ern2^m3Btlr
• Name: endoplasmic reticulum to nucleus signalling 2; mutation 3, Bruce Beutler
• MGI ID: MGI:5806430
• Synonyms: ernie3
• Gene: Ern2 Location: Chr7:121769116-121785430 bp, - strand Genetic Position: Chr7, 65.53 cM
• Alliance: Ern2^m3Btlr 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 G to T transversion at base pair 122,173,819 (v38) on chromosome 7, or base pair 12,408 in the GenBank genomic region NC_000073 within the acceptor splice site of intron 14. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in a 2-base pair deletion in exon 15 due to the use of a cryptic site in exon 15. The 2-base pair deletion would result in a frame-shifted protein product beginning after amino acid 525 of the protein, and premature termination after the inclusion of two aberrant amino acids. (J:236686)
• Inheritance: Recessive

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: 42 strains or lines available

References

• Original: J:236686 Turer E, et al., Mutagenetix entry for ernie3. MGI Direct Data Submission. 2016
• All: 1 reference(s)