Targeted disruption of RDH11 resulted in the replacement of exons 2 and 3 with the neomycin gene. Exon 2 contains the NADPH binding site. Any resulting transcript from exon 1 would be 22 amino acids long. Alternative splicing from this exon to any of exons 4-7 would cause a frameshift resulting in a premature stop codon. Immunoblotting demonstrated the loss of protein from mutant testes. Transcript was not found in mutant liver tissue. (J:97788)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion
--
1
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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