Bbs9^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Bbs9^m1Btlr
• Name: Bardet-Biedl syndrome 9; mutation 1, Bruce Beutler
• MGI ID: MGI:6200219
• Synonyms: corpulent
• Gene: Bbs9 Location: Chr9:22387011-22799576 bp, + strand Genetic Position: Chr9, 9.17 cM
• Alliance: Bbs9^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: ENU-induced G to T transversion at base pair 22,575,196 (v38) on chromosome 9, or base pair 99,660 in the GenBank genomic region NC_000075 within the splice donor site of intron 8. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic splice site in exon 8. The resulting transcript would have a 78-base pair deletion in exon 8. The deletion would cause an in-frame deletion of 26 amino acids beginning after amino acid 209 of the protein, which is normally 880 amino acids long. (J:265189)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 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 Bbs9 Mutation: 58 strains or lines available

References

• Original: J:265189 Turer E, et al., Mutagenetix entry for corpulent. MGI Direct Data Submission. 2018
• All: 1 reference(s)