Spta1^sph-3J
Spontaneous Allele Detail

Summary

• Symbol: Spta1^sph-3J
• Name: spectrin alpha, erythrocytic 1; spherocytosis 3 Jackson
• MGI ID: MGI:3621484
• Gene: Spta1 Location: Chr1:174000342-174076016 bp, + strand Genetic Position: Chr1, 80.97 cM
• Alliance: Spta1^sph-3J page

Mutation origin

• Strain of Origin: NOD/ShiLtJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The mutation is a C-to-T transition in exon 43 that results in substitution of histidine with tyrosine at amino acid position 2012 (p.H2012Y). (J:157766)
• Inheritance: Recessive

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Spta1 Mutation: 147 strains or lines available

References

• Original: J:157766 Robledo RF, et al., Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in {alpha}-spectrin-deficient red cells. Blood. 2010 Mar 4;115(9):1804-14
• All: 1 reference(s)