Hbb^{tm1.1(HBG1,HBB*)Ryan}
Targeted Allele Detail

Summary

• Symbol: Hbb^{tm1.1(HBG1,HBB*)Ryan}
• Name: hemoglobin beta chain complex; targeted mutation 1.1, Thomas M Ryan
• MGI ID: MGI:3843171
• Synonyms: gamma beta⁰
• Gene: Hbb Location: unknown Genetic Position: Chr7, Syntenic

Hbb^{tm1.1(HBG1,HBB*)Ryan}/Hbb⁺ mice have a severe Beta Thalassemic phenotype

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:147906
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence, Null/knockout)
• Mutations: Insertion, Intergenic deletion
• Hbb^{tm1.1(HBG1,HBB*)Ryan} involves 2 genes/genome features (Hbb-b1, Hbb-b2) View all
• Hbb^{tm1.1(HBG1,HBB*)Ryan} 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 a single G to A mutation in the first base of intron 1 destroying the normal splice donor site

  human

  HBG1 (3047)

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

• Mutation details: A 5.7 kb human A gamma globin (HBG1) gene fragment (GenBank id: U01317: 38,066-43,728), a 4.1 kb human beta globin (HBB) gene fragment, and a floxed pgk-hygromycin cassette replaced the Hbb-b1 and Hbb-b2. The human beta globin gene fragment contained a single G to A mutation in the first base of intron 1 destroying the normal splice donor site. The switch from expression of HBG1 to expression of HBB is delayed until after birth. The mutant HBB locus produces only short lived aberrantly spliced transcripts. (J:147906)

Generation of the Hbb^{tm1.1(HBG1,HBB*)Ryan} allele

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

Notes

Authors state they used human gamma beta KI hprt tagged ES cells. (J:147906)

References

• Original: J:147906 Huo Y, et al., Humanized Mouse Model of Cooley's Anemia. J Biol Chem. 2009 Feb 20;284(8):4889-96
• All: 1 reference(s)