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Allele : Best1<tm1.1Amar> bestrophin 1; targeted mutation 1.1, Alan Marmorstein

Primary Identifier  MGI:4443333 Allele Type  Targeted
Gene  Best1 Transmission  Germline
Strain of Origin  129S/SvEv Is Recombinase  false
Is Wild Type  false
molecularNote  Single nucleotide change was introduced to the endogenous gene by homologous recombination. The floxed neo selection cassette was introduced into intronic sequence and removed by subsequent cross with cre expressing mice. The mutation represent W93C disease causing mutation of the gene in human.
  • mutations:
  • Intragenic deletion,
  • Insertion,
  • Single point mutation
  • synonyms:
  • Best1<W93C>,
  • Best1<W93C>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele