This allele was discovered after mating and screening mice that did not express an exogenous transgene (rabbit type-I sodium-proton exchanger) in other work. One offspring from these matings showed an interesting phenotype, and the mutant was named klotho. It was determined that insertion of the unrelated, exogenous transgene had caused an 8 kb deletion in the 5' upstream region of the Kl locus in the mutant animal. (J:44109)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J and C3H/HeJ
--
Intergenic deletion
Recessive
1
2
160

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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