Hbb^tm2Unc
Targeted Allele Detail

Summary

• Symbol: Hbb^tm2Unc
• Name: hemoglobin beta chain complex; targeted mutation 2, University of North Carolina
• MGI ID: MGI:1888408
• Synonyms: Hbb^th-4, IVS2-654, th-4
• Gene: Hbb Location: unknown Genetic Position: Chr7, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:64295
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Hbb^tm2Unc involves 2 genes/genome features (Hbb-b1, Hbb-b2) View all
• Hbb^tm2Unc expresses 1 gene
  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)

• Mutation details: Hbb-b1 and Hbb-b2 were replaced with sequence encoding human HBB containing the beta-thalassemia associated mutation, IVS-2-654. The insertion was made using the "plug and socket" method which leaves an hprt gene downstream of the inserted human sequence. RT-PCR analysis of heterozygous mutant mice identified aberrant splicing similar to that observed in humans with the IVS-2-654 mutation. (J:64295)

Disease models

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 Hbb Mutation: 47 strains or lines available

References

• Original: J:64295 Lewis J, et al., A common human beta globin splicing mutation modeled in mice. Blood. 1998 Mar 15;91(6):2152-6
• All: 7 reference(s)