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A loxP site flanked STOP cassette, with a 5' puromycin resistance gene cassette, was inserted into intron 2. Endogenous exon 3 was modified to harbor a C-to-T mutation at codon 58, resulting in a threonine to isoleucine mutation (p.T58I) associated with patients with Noonan syndrome (NS). (J:296368)
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
