To replicate t(2;13), a chromosomal transloction associated with the pediatric disease alveolar rhabdomyosarcoma, a sequence fragment from a PAX3-FOXO1A fusion cDNA was inserted at the endogenous locus via homologous recombination. The last 50 bp of the endogenous exon 7 were replaced with related PAX3 sequence and a 3' portion of FOXO1A. Various analyses indicated low levels of expression of the knock-in allele. (J:79365)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Intragenic deletion
--
1
8
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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