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Exon 5 was replaced with one in which a C to A substitution results in the amino acid substitution of histidine with asparagine at position 129 (p.H129N) in the encoded protein. This mutation occurs in nuclease motif III. A loxP site flanked neomycin resistance gene cassette was inserted into intron 5 and subsequently removed by transient cre expression in ES cells. (J:147247)
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
