Sema4c^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Sema4c^m1Btlr
• Name: sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C; mutation 1, Bruce Beutler
• MGI ID: MGI:6268787
• Synonyms: swirl
• Gene: Sema4c Location: Chr1:36587720-36597430 bp, - strand Genetic Position: Chr1, 15.32 cM, cytoband B
• Alliance: Sema4c^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 G to T transversion at base pair 36,550,311 (v38) on chromosome 1, or base pair 8,071 in the GenBank genomic region NC_000067 encoding Sema4c. The mutation corresponds to residue 2,251 in the NM_001304330 mRNA sequence in exon 16 of 16 total exons, to residue 2,136 in the NM_001126047 mRNA sequence in exon 15 of 15 total exons, and to residue 1,971 in the NM_001304329 mRNA sequence in exon 15 of 15 total exons. The mutation results in a cysteine (C) to phenylalanine (F) substitution at position 578 (C578F) in all isoforms of the SEMA4C protein. (J:267562)
• 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 Sema4c Mutation: 36 strains or lines available

References

• Original: J:267562 Reyna C, et al., Mutagenetix entry for swirl. MGI Direct Data Submission. 2018
• All: 1 reference(s)