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A floxed cDNA of exons 13 through 16 and a neo cassette were inserted upstream of exon 13. Exon 16 was replaced with one in which nucleotide substitutions result in the amino acid substitution of valine for leucine at position 613 (L613V). Cre-mediated recombination removed the cDNA and neo cassette. The amino acid substitution is a kinase activating mutation associated with Noonan syndrome. (J:172034)
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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References Literature
Title
PMID
Journal
Year
IF
