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Allele : Hbb<tm2Unc> hemoglobin beta chain complex; targeted mutation 2, University of North Carolina

Primary Identifier  MGI:1888408 Allele Type  Targeted
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Hbb
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • th-4,
  • th-4,
  • IVS2-654,
  • IVS2-654,
  • Hbb<th-4>,
  • Hbb<th-4>
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1 Feature

Genome

1 Expresses

2 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

10 Publication categories