Spta1^sph-ha
Spontaneous Allele Detail

Summary

• Symbol: Spta1^sph-ha
• Name: spectrin alpha, erythrocytic 1; hemolytic anemia
• MGI ID: MGI:1856181
• Synonyms: ha, sph^1J, Sph-J
• Gene: Spta1 Location: Chr1:174000342-174076016 bp, + strand Genetic Position: Chr1, 80.97 cM
• Alliance: Spta1^sph-ha page

Mutation origin

• Strain of Origin: DBA/1J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The mutation in the sph-ha mouse (also known as sph-J) was identified as a C-to-A transversion in exon 52 that converts a tyrosine 2403 to a stop codon (p.Y2403*). This mutation truncates the protein by 13 amino acids. (J:81125)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

11 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:24729 Bernstein S, New mutant: Hemolytic anemia - ha. Mouse News Lett. 1960;23:33
• All: 18 reference(s)