Ank1^M1Wlst
Chemically induced Allele Detail

Summary

• Symbol: Ank1^M1Wlst
• Name: ankyrin 1, erythroid; Mutation 1, William L Stanford
• MGI ID: MGI:4947988
• Synonyms: Ank1^E924X, ENU7192
• Gene: Ank1 Location: Chr8:23464860-23640513 bp, + strand Genetic Position: Chr8, 11.42 cM
• Alliance: Ank1^M1Wlst page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a G to T transition in exon 27 that results in the amino acid substitution of a stop codon for glutamic acid at position 924 (E924X). Western blot analysis confirmed the expression of a truncated protein. (J:170562)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ank1 Mutation: 106 strains or lines available

References

• Original: J:170562 Hughes MR, et al., A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis. Exp Hematol. 2011 Mar;39(3):305-20, 320.e1-2
• All: 2 reference(s)