A 2173 base pair duplication that spans exon 11 results in a tandem duplication of the 147 base pair exon 11, which is predicted to result in an additional 49 in-frame amino acids of the NADPH binding domain. (J:169054)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
CBySmn.Cg-Prkdcscid/J
Spontaneous
Duplication
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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