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EN
Nucleotide substitutions in exon 5 replace five tyrosines with phenylalanine at positions 311, 318, 323, 337, and 338 (p.Y311F, p.Y318F, p.Y323F, p.(Y337_Y338delinsFF)). A loxP site flanked neomycin resistance gene cassette that was inserted into intron 4 was removed through subsequent cre-mediated recombination. (J:150550)
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
