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A mutation in the C terminus of intron 8, c.1207-6T>G, was knocked into the locus along with a floxed neo cassette after exon 9 that was subsequently removed via cre-mediated recombination. This is one of the reported Pseudohypoaldosteronism type II-causing mutations in this gene in humans. (J:226618)
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
