Spag9^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Spag9^m1Btlr
• Name: sperm associated antigen 9; mutation 1, Bruce Beutler
• MGI ID: MGI:4442906
• Synonyms: dazzle
• Gene: Spag9 Location: Chr11:93886917-94016911 bp, + strand Genetic Position: Chr11, 58.9 cM, cytoband C
• Alliance: Spag9^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 mutation comprises a C to A transversion at base pair 93954938 on Chromosome 11 (NCBI m37 mouse assembly (Build 37.1)), corresponding to nucleotide 2544 of the transcript for isoform 1 of the protein, in exon 20 of the gene's 30 exons. It converts a triplet encoding cysteine to a premature termination codon at amino acid positon 788 (C788Ter) in protein isoform 1 (Uniprot record). (J:159363) Additional incidental mutations were detected in sequencing for the causative mutation, Spag9^m1Btlr, and may be present in stocks carrying this mutation.
• 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 Spag9 Mutation: 77 strains or lines available

References

• Original: J:159363 Krebs P, et al., Dazzle is an allele of Spag9 and results in pigmentation and sperm defects. MGI Direct Data Submission. 2010
• All: 1 reference(s)