Rorb^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Rorb^m1Btlr
• Name: RAR-related orphan receptor beta; mutation 1, Bruce Beutler
• MGI ID: MGI:3835752
• Synonyms: 4-limb clasper
• Gene: Rorb Location: Chr19:18907969-19088560 bp, - strand Genetic Position: Chr19, 13.28 cM
• Alliance: Rorb^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: This mutation, discovered by its observable phenotype among the G3 progeny of an ENU mutagenized male mouse, comprises a T to C transition at position 127846 of the gene (Genbank genomic region NC_000085 for linear genomic DNA sequence). It resides in the third exon of either of the two splice variants, each of which contains ten exons. The mutated base corresponds to nucleotide 864 and nucleotide 330, respectively, of the mRNAs encoding protein isoform 1 and isoform 2. The mutation results in replacement of serine by proline at amino acid 76 (S76P) and amino acid 87 (S87P), respectively, of isoforms 1 and 2. (J:145609)
• 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: 1 strain available Cell Lines: 0 lines available
• Carrying any Rorb Mutation: 38 strains or lines available

Notes

The Genbank accession identifier for mRNA isoform 1 is NM_001043354.1, and that for isoform 2 is NM_146095.3.

References

• Original: J:145609 Siggs O, et al., Record for 4-limb clasper, updated 10 Mar 2009. MGI Direct Data Submission. 2009;(March 10)
• All: 1 reference(s)