An A to G nucleotide change was introduced in codon 300 of exon 9. This caused a Threonine to Alaninee mutation. An FRT flanked neomycin resistance was also inserted downstream of exon 9. Subsequent flp recombinase expression excised the selection cassette. This mutation reduces the stability of the protein resulting in reduced steady state levels. (J:211028)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/SvImJ
Targeted
Single point
--
1
1
10

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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