Spta1^sph-Dem
Spontaneous Allele Detail

Summary

• Symbol: Spta1^sph-Dem
• Name: spectrin alpha, erythrocytic 1; spherocytosis-Demant
• MGI ID: MGI:2388936
• Gene: Spta1 Location: Chr1:174000342-174076016 bp, + strand Genetic Position: Chr1, 80.97 cM
• Alliance: Spta1^sph-Dem page

Mutation origin

• Strain of Origin: CcS3/Dem

Mutation description

• Allele Type: Spontaneous
• Mutation: Transposon insertion
• Mutation details: 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. (J:66966)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 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

References

• Original: J:66966 Wandersee NJ, et al., Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. Blood. 2001 Jan 15;97(2):543-50
• All: 3 reference(s)