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Exon 23 was replaced with one in which a point mutation (TTC to CTC) that results in the amino acid substitution of leucine for phenyalanine at position 1178. This mutation corresponds to the F1174 identified in patients with neuroblastoma. Cre-mediated recombination removed the neomycin resistance cassette inserted downstream of the modified exon. (J:228124)
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
