Summary | Mutation origin | Mutation description | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Hbbtm2Unc
Name:	hemoglobin beta chain complex; targeted mutation 2, University of North Carolina
MGI ID:	MGI:1888408
Synonyms:	Hbbth-4, IVS2-654, th-4
Gene:	Hbb  Location: unknown  Genetic Position: Chr7, Syntenic

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

Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence) Mutations:    Insertion, Intragenic deletion   Hbbtm2Unc involves 2 genes/genome features (Hbb-b2, Hbb-b1) View all   Hbbtm2Unc 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)

View phenotypes and curated references for all genotypes (concatenated display).

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

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)