Samd4^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Samd4^m1Btlr
• Name: sterile alpha motif domain containing 4; mutation 1, Bruce Beutler
• MGI ID: MGI:5547989
• Synonyms: Samd4^spmd, supermodel
• Gene: Samd4 Location: Chr14:47120414-47343274 bp, + strand Genetic Position: Chr14, 24.41 cM, cytoband C1
• Alliance: Samd4^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: ENU mutagenesis induced an A to C transversion at 47016337 bp on chromosome 14 within Samd4 (Fig. 3B). The mutation occurs at 994 bp within the transcript (Vega OTTMUST00000057924) and leads to a histidine to proline substitution at amino acid 86 of the 711 amino acid isoform 1 and the 623 amino acid isoform 2. (J:208616)

Expression

In Structures Affected by this Mutation:

10 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 Samd4 Mutation: 37 strains or lines available

References

• Original: J:208616 Chen Z, et al., Mutation of mouse Samd4 causes leanness, myopathy, uncoupled mitochondrial respiration, and dysregulated mTORC1 signaling. Proc Natl Acad Sci U S A. 2014 May 20;111(20):7367-72
• All: 1 reference(s)