Hbb^{tm2(HBG1,HBD,HBB*)Ryan}
Targeted Allele Detail

Summary

• Symbol: Hbb^{tm2(HBG1,HBD,HBB*)Ryan}
• Name: hemoglobin beta chain complex; targeted mutation 2, Thomas M Ryan
• MGI ID: MGI:3846101
• Synonyms: gamma^HPFHdeltabeta⁰
• Gene: Hbb Location: unknown Genetic Position: Chr7, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:148521
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence, Null/knockout)
• Mutations: Insertion, Intergenic deletion
• Hbb^{tm2(HBG1,HBD,HBB*)Ryan} involves 2 genes/genome features (Hbb-b1, Hbb-b2) View all
• Hbb^{tm2(HBG1,HBD,HBB*)Ryan} expresses 3 genes
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  HBB (3043)

  Hbb-b1	(MGI:96021)
  Hbb-b2	(MGI:96022)
  Hbb-bh2	(MGI:96025)
  Hbb-bs	(MGI:5474852)
  Hbb-bt	(MGI:5474850)

  Expresses a single G to A mutation in the first base of intron 1 destroying the normal splice donor site

  human

  HBD (3045)

  Hbb-b1	(MGI:96021)
  Hbb-b2	(MGI:96022)
  Hbb-bh2	(MGI:96025)
  Hbb-bs	(MGI:5474852)
  Hbb-bt	(MGI:5474850)

  human

  HBG1 (3047)

  Hbb-bh0	(MGI:96023)
  Hbb-bh1	(MGI:96024)

• Mutation details: A 4.7 kb human A gamma globin (HBG1) gene fragment (GenBank id: U01317: 38,066-43,728), a 2.9 kb human delta globulin gene fragment (HBD, U01317: 54,336-57,279), a 4.1 kb human beta globin (HBB, U01317:61,320-65,426) gene fragment, and a floxed pgk-hygromycin cassette replaced the Hbb-b1 and Hbb-b2. The HBB gene fragment contained a single G to A mutation in the first base of intron 1 destroying the normal splice donor site and creating a null allele. The switch from expression of HBG1 to expression of HBB is also delayed until after birth by this point mutation. (J:148521)

Disease models

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 Hbb Mutation: 47 strains or lines available

References

• Original: J:148521 Huo Y, et al., Preclinical transfusion-dependent humanized mouse model of beta thalassemia major. Blood. 2009 May 7;113(19):4763-70
• All: 1 reference(s)