Spta1^ihj
Spontaneous Allele Detail

Summary

• Symbol: Spta1^ihj
• Name: spectrin alpha, erythrocytic 1; Iasi hereditary jaundice
• MGI ID: MGI:3615021
• Synonyms: Sph^Ihj
• Gene: Spta1 Location: Chr1:174000342-174076016 bp, + strand Genetic Position: Chr1, 80.97 cM
• Alliance: Spta1^ihj page

Mutation origin

• Strain of Origin: (HRS/J x LAH)F1

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: This spontaneous mutation is a C-to-T transition in exon 39 that changes glutamine 1853 in repeat 18 to a stop codon (p.Q1853*). (J:157766)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

4 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:105409 Cirlan M, et al., A new type of mouse hemolytic anemia named "Iasi hereditary jaundice". Eumorphia 3rd Annual Meeting. Barcelona, Spain. 2006;(Abstracts)):105-106
• All: 2 reference(s)