Smcr8^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Smcr8^m1Btlr
• Name: Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); mutation 1, Bruce Beutler
• MGI ID: MGI:6272372
• Synonyms: patriot
• Gene: Smcr8 Location: Chr11:60668351-60679113 bp, + strand Genetic Position: Chr11, 37.83 cM
• Alliance: Smcr8^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: T to C transition at base pair 60,778,032 (v38) on chromosome 11, or base pair 508 in the GenBank genomic region NC_000077 encoding Smcr8. The mutation corresponds to residue 508 (c.508T>C) in the mRNA sequence NM_001085440.1 within exon 1 of 2 total exons. The mutation results in an isoleucine (I) to threonine (T) substitution at position 2 (I2T) in the SMCR8 protein (p.I2T). (J:268243)
• 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: 0 strains available Cell Lines: 0 lines available
• Carrying any Smcr8 Mutation: 40 strains or lines available

References

• Original: J:268243 McAlpine W, et al., Excessive endosomal TLR signaling causes inflammatory disease in mice with defective SMCR8-WDR41-C9ORF72 complex function. Proc Natl Acad Sci U S A. 2018 Dec 4;115(49):E11523-E11531
• All: 1 reference(s)