Cd40^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Cd40^m2Btlr
• Name: CD40 antigen; mutation 2, Bruce Beutler
• MGI ID: MGI:6113439
• Synonyms: noelle
• Gene: Cd40 Location: Chr2:164897535-164913574 bp, + strand Genetic Position: Chr2, 85.38 cM
• Alliance: Cd40^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 165,063,563 (v38) on chromosome 2, or base pair 7,956 in the GenBank genomic region NC_000068 within the donor splice site of intron 5. The effect of the mutation at the cDNA and protein level has not examined, but the mutation is predicted to result in the use of a cryptic site in intron 5. The resulting transcript would have a 34-nucleotide insertion of intron 5, which would cause a frame shifted protein product beginning after amino acid 165 of the protein, which is normally 289 amino acids in length, and premature termination after the inclusion of 13 aberrant amino acids. (J:254828)
• 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 Cd40 Mutation: 53 strains or lines available

References

• Original: J:254828 Choi JH, et al., Mutagenetix entry for noelle. MGI Direct Data Submission. 2018
• All: 1 reference(s)