A minigene consisting of wild-type exon 4 fused to the downstream exons of this gene locus was used in a targeting vector. The minigene and a neo-selection cassette were flanked with loxP sites and placed upstream of a mutated exon 4 sequence that substitutes the serine at amino acid 133 to an Alanine. This targeting vector was used to replace the endogenous exon 4 of the gene locus. In the absence of Cre expression, splicing between exon 3 and the minigene results in expression of a wild-type protein. Following expression of Cre-recombinase, the minigene is removed and splicing occurs on to the mutated exon 4 leading to transcription of the Ser133Ala mutant. (J:139576)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion
--
1
2
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

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PMID
Journal
Year
IF
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