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| Nomenclature |
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Symbol:
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Hbbtm2Unc
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Name:
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hemoglobin beta chain complex;
targeted mutation 2, University of North Carolina
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MGI ID: |
MGI:1888408 |
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Synonyms: |
Hbbth-4, IVS2-654, th-4 |
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Gene:
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Hbb
Location:
unknown
Genetic Position: Chr7,
Syntenic
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:64295
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Parent Cell Line:
| E14TG2a (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
4 reference(s)
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Analysis Tools
