Tpsab1^m1
Spontaneous Allele Detail

Summary

• Symbol: Tpsab1^m1
• Name: tryptase alpha/beta 1; mutation 1
• MGI ID: MGI:3823092
• Synonyms: MCP-7, MCP-7^G416A
• Gene: Tpsab1 Location: Chr17:25562219-25564536 bp, - strand Genetic Position: Chr17, 12.53 cM, cytoband A3.3
• Alliance: Tpsab1^m1 page

Mutation origin

• Strain of Origin: multiple strains

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: A G-to-A point mutation occurred at the exon 2/intron 2 splice site that resulted in the activation of a cryptic splice site. This caused a 98-bp deletion in the mature mRNA and introduced a premature stop codon. The truncated transcript was produced in mast cells but was quickly degraded before any detectable protein product could be made. This mutation was found to be present in all non-outbred strains of black mice from Miss Lathrop's albino lineage (e.g. C57BL/6, C57BL/10, C58, C57L, C57Br/cd) but not in BALB/c or 129 mouse strains. (J:31582)

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 Tpsab1 Mutation: 15 strains or lines available

Notes

This mutation is present in all non-outbred strains of black mice from Miss Lathrop's albino lineage (e.g. C57BL/6J, C57BL/10J, C57BL/6By, C58, C57L, C57Br/cd) (J:31582).

References

• Original: J:31582 Hunt JE, et al., Natural disruption of the mouse mast cell protease 7 gene in the C57BL/6 mouse. J Biol Chem. 1996 Feb 2;271(5):2851-5
• All: 5 reference(s)