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Exon 13 was replaced with an FRT-flanked neo cassette and a floxed exon 13 in which nucleotide substitutions (CGT to CAC) resulted in the amino acid substitution of histidine for arginine at position 669 (R669H). Two additional silent polymorphisms were inserted at codon 661 (GTG to GTA) and 662 (CTC to CTG). Flp-mediated recombination removed the neo cassette. (J:178228)
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
