Exon 1 was replaced with one in which an A to T transition results in the amino acid substitution of tyrosine for phenylalanine at position 81 (F81Y). An FRT-flanked neo cassette was inserted downstream of exon 3. Flp-mediated recombination removed the neo cassette. Western blot analysis confirmed a 2-fold reduction in protein expression. (J:185275)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Single point
--
1
1
1

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

References Literature

Title
PMID
Journal
Year
IF
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