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Allele : Rabep2<em2Jef> rabaptin, RAB GTPase binding effector protein 2; endonuclease-mediated mutation 2, Jefferson Y Chan

Primary Identifier  MGI:5897819 Allele Type  Endonuclease-mediated
Attribute String  Hypomorph Gene  Rabep2
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology targeting is used to introduce a nucleotide substitution R298Q (guanine to adenine) at position rs33080487 in the Rabep2 gene. Gene product is detected by western blot analysis (with mass spectrometry confirmation) of whole brain and neocortex tissue. The nucleotide substitution reflects a polymorphism (adenine) found in the BALB/cByJ inbred strain, in contrast to guanine found in C57BL/6 mice.
  • mutations:
  • Single point mutation
  • synonyms:
  • SNP,
  • SNP
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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

2 Publication categories

Trail: Allele