Spta1^sph-2Bc
Spontaneous Allele Detail

Summary

• Symbol: Spta1^sph-2Bc
• Name: spectrin alpha, erythrocytic 1; spherocytosis 2 British Columbia
• MGI ID: MGI:1856180
• Synonyms: sph^2Bc
• Gene: Spta1 Location: Chr1:174000342-174076016 bp, + strand Genetic Position: Chr1, 80.97 cM
• Alliance: Spta1^sph-2Bc page

Mutation origin

• Strain of Origin: mixed

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The mutation in the sph-BC mouse was identified as a G-to-T in transversion in the first nucleotide of intron 41. This mutation eliminates exon 41 splice donor site G-GT by changing it to G-TT. This causes a splicing defect that results in the skipping of exon 41 causing the deletion of 54 amino acids as well as a frameshift and a premature stop codon. (J:81125)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Spta1 Mutation: 147 strains or lines available

Notes

This allele arose from a mixed SELH stock at the University of British Columbia in 1983.

References

• Original: J:64113 Juriloff DM, Spna1^sph-2Bc - spherocytosis-2Bc. Mouse News Lett. 1983;68:59
• All: 7 reference(s)