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This hypomorphic allele contains a rearrangement in the promoter region. A 182 bp insertion 240 bp upstream of the translation initiation site includes part of exon 1, intron 1, and a portion of exon 2 in inverted orientation. Whole mount in situ hybridisation detected variable and less abundant transcript expression in homozygous mutant E9.5 embryos. (J:80767)
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
