Smtn^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Smtn^m1Btlr
• Name: smoothelin; mutation 1, Bruce Beutler
• MGI ID: MGI:6114749
• Synonyms: runtish
• Gene: Smtn Location: Chr11:3467522-3489337 bp, - strand Genetic Position: Chr11, 2.47 cM, cytoband A2-A3
• Alliance: Smtn^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: ENU-induced C to A transversion at base pair 3,531,326 (v38) on chromosome 11, or base pair 8,329 in the GenBank genomic region NC_000077. The mutation corresponds to residue 912 in the mRNA sequence NM_013870 within exon 7 of 21 total exons. The mutation results in an alanine (A) to aspartic acid (D) substitution at position 223 (A223D) in all variants of the protein. (J:255298)
• 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 Smtn Mutation: 44 strains or lines available

References

• Original: J:255298 Chen Z, et al., Mutagenetix entry for runtish. MGI Direct Data Submission. 2018
• All: 1 reference(s)