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Allele : Gjb6<tm1.1Fama> gap junction protein, beta 6; targeted mutation 1.1, Fabio Mammano

Primary Identifier  MGI:4848154 Allele Type  Targeted
Attribute String  Humanized sequence, Modified isoform(s), Reporter Gene  Gjb6
Transmission  Germline Strain of Origin  129P2/OlaHsd-Hprt1<b-m3>
Is Recombinase  false Is Wild Type  false
molecularNote  A substitution corresponding to a human disease-associated mutation that result in the amino acid substitution of methionine for threonine at position 5 (T5M) was created and downstream of the gene a construct containing an IRES, lacZ with a nuclear localization signal, and an FRT-flanked neo cassette was inserted. Flp-mediated recombination removed the neo cassette. Reduced protein expression was confirmed by western blot analysis.
  • mutations:
  • Nucleotide substitutions,
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • Cx30<T5M>,
  • Cx30<T5M>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

11 Publication categories

Trail: Allele