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Allele : Notch2<tm1.1Hhtg> notch 2; targeted mutation 1.1, Irm Hermans-Borgmeyer

Primary Identifier  MGI:6766469 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Notch2
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  The T at position 6272 in exon 34 was deleted. An FRT-flanked PGK/gb2-neomycin cassette was inserted upstream of exon 34 and was removed via flp-mediated recombination. The 6272delT mutation results in a premature stop codon eight nucleotides further downstream (p.Phe2091SerfsX4). This is a Hajdu Cheney Syndrome-associated mutation.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Notch2<HCS>,
  • Notch2<HCS>,
  • Notch2<F2091SfsX4>,
  • Notch2<F2091SfsX4>
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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

5 Publication categories

Trail: Allele