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The CAG (cytomegalovirus enhancer and chicken beta-actin) promoter was used to drive cre-dependent expression of a modified Ptpn11 gene, which contains the amino acid substitution of glutamate for glutamine at position 510, following removal of an intervening floxed chloramphenicol acetyltransferase (cat) gene. The Q510E mutation is found in patients with aggressive Noonan syndrome with multiple lentigines. The pound symbol (#) is used when line is not specified and/or lines are pooled. (J:237450)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
