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The insertion of a vector containing a GLVP cassette and a neomycin resistance gene changed an internal ATG codon (methionine 381) to a stop codon and deleted 9kb of sequence. The deleted region encoded all of the functional domains except for the bHLH-PAS domain. Western blotting of renal and hepatic protein extracts showed the absence of full-length protein in homozygous mutant mice. (J:46528)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
