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Targeted Allele Detail
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 expresses 1 gene
Mutation detailsHbb-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 for all genotypes (concatenated display).
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:  25 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:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory