Exon 9 was replaced with a modified exon containing a C-to-T point mutation (c.952C>T) that results in the introduction of a stop codon in place of an arginine codon (p.R318*). Flp-mediated recombination removed and FRT-flanked neomycin resistance cassette inserted into intron 8. The absence of protein expression was confirmed. The mutation is the equivalent of the human UNIPROT:Q8NF50:p.R317* mutation found in some combined immunodeficiency patients. (J:237279)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Single point
--
1
4
4

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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