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Allele : Rr29<Dz> regulatory region 29; preaxial polydactyly

Primary Identifier  MGI:3851923 Allele Type  Chemically induced (ENU)
Attribute String  Modified regulatory region Gene  Rr29
Inheritance Mode  Dominant Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • DZ<m>,
  • Shh<Dz>,
  • DZ<m>,
  • Shh<Dz>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

3 Publication categories