Stat1^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Stat1^m2Btlr
• Name: signal transducer and activator of transcription 1; mutation 2, Bruce Beutler
• MGI ID: MGI:3785244
• Synonyms: poison
• Gene: Stat1 Location: Chr1:52158599-52201024 bp, + strand Genetic Position: Chr1, 26.81 cM
• Alliance: Stat1^m2Btlr 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, discovered in an ENU mutagenesis screen for defective natural killer (NK) cell function, is a T-to-A transversion at nucleotide position 31788 of the gene (Genbank genomic region NC_000067) within intron 19, thirteen base pairs upstream from the 5' end of exon 20; it impairs the acceptor splice site of intron 19. cDNA sequence analysis demonstrates the presence of several abnormal transcripts. In one case, a sequence within exon 20 (TCCTAG, position 31850-31855) is used as an acceptor splice signal, resulting in deletion of 55 nucleotides from the 5' end of exon 20; a frameshift occurs after codon 544 that introduces a premature stop codon following codon 561. Some normal transcripts may also be produced. (J:134096)
• 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 Stat1 Mutation: 74 strains or lines available

References

• Original: J:134096 Whitley K, et al., Poison is an allele of Stat1 and affects NK cell function and MCMV clearance. MGI Direct Data Submission. 2008
• All: 2 reference(s)