The mutation in the R542 mouse was identified as an A-to-G substitution at coding nucleotide position 1516 (c.1516A>G), replacing a lysine residue with a glutamic acid at postion 506 (p.K506E). The lysine residue is part of the putative NADPH binding site. (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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