The mutation in the R96 mouse was identified as a T-to-A nonsense mutation at coding nucleotide position 381 (c.381T>A), changing tyrosine codon 127 to a stop codon (p.Y127*). The resulting protein, if produced, would be truncated, lacking most of the relevant feature of NADPH oxidases and would be non-functional. (J:89010)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H
Chemically induced
Single point
Recessive
1
--
1

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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