A region encompassing sequence from exons 4 through 10 was replaced with a neomycin selection cassette. The deleted region encoded the entire PAS domain and a downstream portion of the PAC domain that is involved in dimerization and regulatory functions. RT-PCR analysis showed the presence of two truncated transcripts in homozygous mutant mice. Sequence analysis of the transcripts showed that the inserted neomycin transgene had been excised and in-frame stop codons had been introduced. The presence of two transcripts was the result of different splice patterns, one which included the remaining 5' portion of exon 4 and one that did not. Western blot analysis of protein extracts showed an absence of encoded protein in homozyous mutant mice. (J:70850)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Intragenic deletion
--
1
--
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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