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Allele : Bbs1<tm1Vcs> Bardet-Biedl syndrome 1; targeted mutation 1, Val C Sheffield
Primary Identifier  MGI:3767672 Allele Type  Targeted
Gene  Bbs1 Transmission  Germline
Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+> Is Recombinase  false
Is Wild Type  false
molecularNote  The methionine codon (ATG) at position 390 in exon 12 was replaced with an arginine codon (AGG) and a neo cassette was inserted into intron 12 via homologous recombination. Northern blot analysis indicated that mRNA expression is not reduced in homozygous brains.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Bbs1<M390R>,
  • Bbs1<M390R>
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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

24 Publication categories





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