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A single point mutation, 8545T>A, was induced by ENU treatment in the cis regulatory element (mammals-fish-conserved-sequence 1, Mfcs1) located 1 Mb upstream of the Shh gene it regulates in intron 5 of Lmbr1. Analysis indicates this mutation increases the binding affinity of Hnrnpu for the core DNA element. In situ analysis detected ectopic expression of Shh in limb buds of homozygous mice at E12. (J:150728)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
