Spta1^sph
Spontaneous Allele Detail

Summary

• Symbol: Spta1^sph
• Name: spectrin alpha, erythrocytic 1; spherocytosis
• MGI ID: MGI:1856377
• Synonyms: sph
• Gene: Spta1 Location: Chr1:174000342-174076016 bp, + strand Genetic Position: Chr1, 80.97 cM
• Alliance: Spta1^sph page

Mutation origin

• Strain of Origin: C3H

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The mutation in the sph mouse was identified as a single base pair deletion in exon 11 that causes a frame shift and premature stop codon. (J:80999)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

7 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

Notes

This original spherocytosis mutation arose in an unpedigreed C3H stock.

References

• Original: J:12276 JOE M, et al., A new mutation (sph) causing neonatal jaundice in the house mouse. Can J Genet Cytol. 1962 Jun;4:219-25
• All: 23 reference(s)