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A floxed neo cassette was inserted upstream of exon 4 and a mutant exon 5N with 4 point mutations that create an N209D substitution and an AccI restriction site was inserted via homologous recombination. Cre mediated recombination removed the neo cassette. This mutation converts the neonatal specific exon sequence so that it matches that of the adult specific exon 5A. (J:219222)
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
