A single loxP site was inserted into intron 10 and a loxP flanked neomycin selection cassette was inserted into exon 11. In addition, a point mutation was introduced into exon 11 that altered codon 582 from one encoding glutamine to one encoding arginine. The neomycin resistance cassette was removed in ES cells by transient Cre expression prior to the production of chimeric mice, leaving loxP sites flanking the mutated exon 11 in the final, heritable allele. RT-PCR analysis demonstrated that a transcript was produced from this allele at normal expression levels, and western blot analysis confirmed the expression of a mutant protein. (J:75498)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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