A cassette consisting of mouse exon 1, EGFP reporter sequence, loxP site, 2A self-cleaving peptide sequence, human DDX25 cDNA containing an arginine to histidine substitution at amino acid 242, SV40 sequence, loxP site, FRT-flanked PGK-neomycin selection cassette, and third loxP site replaced exons 1-5 of the gene. Flp-mediated recombination removed the neomycin cassette. The R242H variant is found in Japanese infertile men. (J:291302)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/SvJ
Targeted
Insertion, Intragenic deletion
--
1
1
4

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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