Ern2^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ern2^m1Btlr
• Name: endoplasmic reticulum to nucleus signalling 2; mutation 1, Bruce Beutler
• MGI ID: MGI:5607643
• Synonyms: ernie
• Gene: Ern2 Location: Chr7:121769116-121785430 bp, - strand Genetic Position: Chr7, 65.53 cM
• Alliance: Ern2^m1Btlr 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: The molecular lesion is a T to A transversion at base pair 122,171,661 (v38) on chromosome 7, or base pair 13,056 in the GenBank genomic region NC_000073. This corresponds to the second nucleotide within the donor splice site of intron 18. The effect of the mutation at the cDNA and protein levels has not been analyzed, but it is predicted to result in skipping of the 148-base pair exon 18 (of 22 total exons), which would cause a frame-shift, coding of 7 aberrant amino acids, and a premature stop codon that would truncate the protein after amino acid 694. (J:216045)
• 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: 1 strain available Cell Lines: 0 lines available
• Carrying any Ern2 Mutation: 41 strains or lines available

References

• Original: J:216045 Turer E, et al., Mutagenetix entry for ernie. Updated on December 18, 2014. MGI Direct Data Submission. 2014
• All: 1 reference(s)