Using an 'in step' recombination strategy, the sequence encoding the putative binding domains in exon 26 were replaced with those encoding human HBB peptides. The 5' binding domain (3143LSVKAQYKKNSD3154) was replaced with amino acids 1-12 of the HBBS globin (1VHLTPVEKSAVT12). The 3' binding domain (3356GTSRLMRKRGL3366) was replaced with amino acids 120-131 of HBBA globin (120KEFTPPVQAAYQ131). The reading frame was maintained in the mutant allele, however, the disruption creates a premature stop codon at position 3688. The mutant allele contains 3687 residues, which is 81% of the full length protein. (J:36426)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion
--
1
7
3

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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