Rc3h1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Rc3h1^m1Btlr
• Name: RING CCCH (C3H) domains 1; mutation 1, Bruce Beutler
• MGI ID: MGI:5789557
• Synonyms: curlyfry
• Gene: Rc3h1 Location: Chr1:160733988-160802548 bp, + strand Genetic Position: Chr1, 69.75 cM
• Alliance: Rc3h1^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 A to G transition at base pair 160,959,399 (v38) on chromosome 1, or base pair 52,989 in the GenBank genomic region NC_000067. The mutation is located within the acceptor splice site of intron 13, two nucleotides from exon 14. The effect of the mutation at the mRNA and protein level is unknown. One possibility, is that a cryptic site in intron 13 may be used, resulting in a 28-base pair insertion of intron 13. The insertion would cause a frame-shift (affecting the protein after amino acid 788) and subsequent premature termination after the inclusion of 12 aberrant amino acids. (J:234246)
• 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 Rc3h1 Mutation: 42 strains or lines available

References

• Original: J:234246 White D, et al., Mutagenetix entry for curlyfry. MGI Direct Data Submission. 2016
• All: 1 reference(s)