WB.CcS3-Spta1^sph-Dem/BrkJ

Stock number: 003816
Product name: sph^Dem

Description

These mice carry a spontaneous mutation at the Spta1 locus characterized by severe hereditary elliptocytosis (HE).

Detailed description

These Spta1^sph-Dem mice exhibit severe hereditary elliptocytosis (HE). The mutation is the insertion of an intracisternal A particle element in intron 10 of the erythroid alpha-spectrin gene. This causes exon skipping, the in-frame deletion of 46 amino acids from repeat 5 of alpha-spectrin and alters spectrin dimer/tetramer stability and osmotic fragility. The disease is more severe in homozygous neonates than in alpha-spectrin-deficient mice with hereditary spherocytosis (HS). Thrombosis and infarction are not limited to adults but occur soon after birth. These mice provide a unique model for analyzing spectrin dimer- to-tetramer conversion and identifying factors that influence thrombosis.

Allele

Symbol: Spta1^sph-Dem
Name: spherocytosis-Demant
MGI accession ID: MGI:2388936
Generation method: Spontaneous
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: CcS3/Dem
Molecular note: Sequence analysis of genomic DNA shows this allele is the result of an intracisternal A particle transposon insertion into intron 10 of the erythroid alpha-spectrin gene. This leads to abnormal splicing and an in-frame deletion of 46 amino acids from repeat 5 of alpha spectrin.