Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Spta1sph-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:	Spta1sph-Dem page

Strain of Origin:

CcS3/Dem

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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

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)