Blnk^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Blnk^m1Btlr
• Name: B cell linker; mutation 1, Bruce Beutler
• MGI ID: MGI:4442912
• Synonyms: Busy
• Gene: Blnk Location: Chr19:40917371-40982664 bp, - strand Genetic Position: Chr19, 34.26 cM
• Alliance: Blnk^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: The busy mutation corresponds to a T to A transversion at position 1044 of the transcript, in exon 7 of 17 total exons (Genbank record NM_008528). This changes the triplet encoding tyrosine at amino acid position 189 to a stop codon (Y189Ter) and truncates the protein. (J:159439) Additional incidental mutations were detected in sequencing for the causative mutation, Blnk^m1Btlr, and may be present in stocks carrying this mutation.
• Inheritance: Not Specified

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 Blnk Mutation: 76 strains or lines available

References

• Original: J:159439 Arnold CA, et al., Busy is an allele of Blnk and causes defects in B cell development and function. MGI Direct Data Submission. 2010
• All: 2 reference(s)