Rxra^pke
Chemically induced Allele Detail

Summary

• Symbol: Rxra^pke
• Name: retinoid X receptor alpha; pinkie
• MGI ID: MGI:3612274
• Gene: Rxra Location: Chr2:27566452-27652969 bp, + strand Genetic Position: Chr2, 19.38 cM
• Alliance: Rxra^pke page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation, originally identified in an ENU mutagenesis screen by its visible phenotype, is due to an A-to-T transversion in exon 6 resulting in substitution of asparagine for isoleucine at amino acid position 273 of the protein (I273N), which alters the ligand binding and heterodimerization domain. (J:103186)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

4 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 Rxra Mutation: 30 strains or lines available

Notes

The hypomorphic mutant protein retains only 10% of the activity of the wild-type protein in both the retinoic acid and vitamin D signaling pathways, as measured in HEK293 cells harboring a luciferase reporter gene under control of either the retinoic acid responsive element (RARE) or the vitamin D responsive element (VDRE). Real-time PCR shows the mutant mRNA is expressed in homozygous mutant mice at approximately twice the normal rate. J:103186

References

• Original: J:103186 Du X, et al., An essential role for Rxralpha in the development of Th2 responses. Eur J Immunol. 2005 Dec;35(12):3414-23
• All: 1 reference(s)