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Allele : Sh2b1<em1Ccsu> SH2B adaptor protein 1; endonuclease-mediated mutation 1, Christin Carter-Su

Primary Identifier  MGI:6446110 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Sh2b1
Strain of Origin  Not Specified Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/cas9 endonuclease-mediated genome editing was used to create an amino acid substitution at position 322 altering proline to serine (P322S; CCC to TCC) in exon 3 of the gene. The mutation is located in the pleckstrin domain (PH), and was identified as a human childhood obesity-associated variant allele.
  • mutations:
  • Single point mutation
  • synonyms:
  • P322S,
  • P322S
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories