B6.Cg-Spta1^sph-2Bc/BrkJ

Stock number: 001185
Product name: spherocytosis 2 British Columbia

Description

These mice carry a spontaneous mutation at the Spta1 locus characterized by a defect in the red blood cell membrane protein, spectrin, and severe hereditary spherocytosis or hereditary elliptocytosis.

Detailed description

The Spta1^sph-2Bc spontaneous mutation involves a defect in the red blood cell membrane protein, spectrin, and causes severe hereditary spherocytosis or hereditary elliptocytosis. A splicing mutation initiates the skipping of exon 41 and premature protein termination before the site required for dimerization of alpha-spectrin with beta-spectrin. Barely perceptible levels of messenger RNA and consequent decreased synthesis of alpha-spectrin protein are primarily responsible for the resultant hemolysis.

Allele

Symbol: Spta1^sph-2Bc
Name: spherocytosis 2 British Columbia
MGI accession ID: MGI:1856180
Generation method: Spontaneous
Synonyms: sph^2Bc
Marker symbol: Spta1
Marker name: spectrin alpha, erythrocytic 1
Marker synonyms: EL2; erythroid; HPP; HS3; ihj; SPH3; Spna1; Spna-1; SPTA
Chromosome: 1
Strain of origin: mixed
Molecular note: 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.
General note: This allele arose from a mixed SELH stock at the University of British Columbia in 1983.