Exons 16-18, encoding amino acids 647-782 of the transcript and the largest part of the first nucleotide-binding fold (NBF1) including Walker A and B and the signature C motifs, were replaced with a PGK-hygro cassette. RT-PCR failed to detect transcript using primers located within the deleted area. An aberrant transcript that lacked the NBF1 region was detected, however, sequencing revealed that any putative reading frame would be interrupted by several stop codons through the introduction of the hygro cassette. Protein was not detected in mutant liver or kidney samples. (J:105062)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
7
24

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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