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A G>A nucleotide substitution was introduced into BAC clone bMQ-374d12 to change codon 195 from aspartic acid to asparagine (p.D195N, equivalent to p.D197N in the human ortholog). The BAC was then used in the targeting vector to replace the endogenous sequence through homologous recombination. The equivalent mutation in human is associated with male infertility. (J:223228)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
