Ltbr^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ltbr^m1Btlr
• Name: lymphotoxin B receptor; mutation 1, Bruce Beutler
• MGI ID: MGI:5578031
• Synonyms: kama
• Gene: Ltbr Location: Chr6:125283534-125290848 bp, - strand Genetic Position: Chr6, 59.32 cM
• Alliance: Ltbr^m1Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T-to-G transversion at base pair 125,313,388 on chromosome 6 (GRCm38), corresponding to base pair 483 in GenBank genomic region NC_000072. The mutation is located in the donor splice site of intron 2, two nucleotides from the previous exon; the transcript contains 10 total exons. The effect of the mutation at the cDNA and protein level is unknown. One possibility, shown below, is that aberrant splicing may result in the skipping of the 97 base pair exon 2 and splicing from exon 1 to exon 3. The aberrant splicing would lead to a deletion of 32 amino acids and a frameshift; the mis-spliced protein would end prematurely in exon 7. (J:212068)
• Inheritance: Recessive

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 Ltbr Mutation: 47 strains or lines available

References

• Original: J:212068 Choi JH, et al., Mutagenetix entry for kama. MGI Direct Data Submission. 2014
• All: 2 reference(s)