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The beta-geo gene trap was inserted into intron 23. This mutation creates a fusion of all three isoforms that disrupts the Rho-guanine nucleotide exchange factor (GEF) and protein kinase D (PKD) binding domains. Quantitative PCR analysis of neonatal heart and lung RNA revealed that expression of the E37-38 exon-exon junction is reduced in heterozygous and completely eliminated in homozygous mutant mice, while expression of the E4-5 exon-exon junction remains unaffected. (J:231257)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
