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422 bp of the 5' untranslated region and the first 144 bp of the gene coding region were replaced with a PGK-neo cassette via homologous recombination. The gene targeting event results in deletion of the first 48 amino acids of the basic helix-loop-helix domain. Gene expression is absent in kidneys from homozygous mutant animals as determined by in situ hybridization. (J:76787)
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
