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

Summary

• Symbol: Hbb^{tm2(HBG1,HBB*)Tow}
• Name: hemoglobin beta chain complex; targeted mutation 2, Timothy Townes
• MGI ID: MGI:3790753
• Synonyms: -1400-gamma-beta^S, HBB^E6K, Hbb^hbetas, Hbb^tm2(HBB*)Tow, HbSS-Townes
• Gene: Hbb Location: unknown Genetic Position: Chr7, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:134980
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intergenic deletion
• Hbb^{tm2(HBG1,HBB*)Tow} involves 2 genes/genome features (Hbb-b1, Hbb-b2) View all
• Hbb^{tm2(HBG1,HBB*)Tow} expresses 2 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 the sickle cell form of human HBB

  human

  HBG1 (3047)

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

• Hbb^{tm2(HBG1,HBB*)Tow} expression driven by 1 gene
  Knock-in expression driven by:
  

  Organism	Driver Gene	Note
  mouse	Hbb (MGI:96020)

• Mutation details: The major and minor beta chains were replaced with a construct made of a 5.66 kb fragment of the human gamma chain including 1400 bp of 5' flanking sequence and a 4.1 kb fragment of the sickle cell form of human HBB in ES cells already containing a replacement of Hba complex with human HBA, Hba^tm1(HBA)Tow. Cre-mediated recombination removed the floxed hygro cassette. (J:44160, J:134980)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Hbb Mutation: 48 strains or lines available

References

• Original: J:134980 Wu LC, et al., Correction of sickle cell disease by homologous recombination in embryonic stem cells. Blood. 2006 Aug 15;108(4):1183-8
• All: 148 reference(s)