Saxo6^m1J
Spontaneous Allele Detail

Summary

• Symbol: Saxo6^m1J
• Name: stabilizer of axonemal microtubules 6; mutation 1, Jackson
• MGI ID: MGI:5905614
• Synonyms: arrd2
• Gene: Saxo6 Location: Chr10:117977716-118004902 bp, + strand Genetic Position: Chr10, 66.65 cM, cytoband C1-C3
• Alliance: Saxo6^m1J page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Spontaneous (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: This spontaneous single base C-to-T nonsense substitution at coding nucleotide 1195 results in a stop codon at arginine codon 399 (p.R399*), which results in truncation of the protein by 320 amino acids. This mutation does not affect the short (ST) splice variant. (J:142852)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Saxo6 Mutation: 28 strains or lines available

References

• Original: J:142852 Chang B, et al., Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene. Hum Mol Genet. 2008 Dec 15;17(24):3929-41
• All: 3 reference(s)