Syk^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Syk^m1Btlr
• Name: spleen tyrosine kinase; mutation 1, Bruce Beutler
• MGI ID: MGI:5502198
• Synonyms: poppy
• Gene: Syk Location: Chr13:52737209-52802828 bp, + strand Genetic Position: Chr13, 27.41 cM, cytoband B-C2
• Alliance: Syk^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: Whole exome HiSeq sequencing of the G1 grandsire identified 56 mutations. Seventeen G3 mice from the poppy pedigree were genotyped at all 56 mutation sites. Among six mice with the poppy phenotype, five were homozygous and one was heterozygous for a mutation in Syk on chromosome 13. Among eleven unaffected mice, eight were either heterozygous or wild type at the Syk locus, while three were homozygous for the Syk mutation, indicating that the poppy phenotype is recessive and incompletely penetrant. These data resulted in a LOD score of 5.30. The mutation is an A to G transition at base pair 52640733 (v38) on Chromosome 13 in the GenBank genomic region NC_000079 encoding Syk. The mutation corresponds to residue 1718 in the NM_011518 mRNA sequence and 1714 in the NM_001198977 mRNA sequence within exon 11 of 14 total exons. The mutation results in a tyrosine (Y) to cysteine (C) substitution at residue 501. (J:199281)
• 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 Syk Mutation: 42 strains or lines available

References

• Original: J:199281 Wang Y, et al., Direct data submission for poppy. MGI Direct Data Submission. 2013
• All: 1 reference(s)