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Allele : Itgb2<m3Btlr> integrin beta 2; mutation 3, Bruce Beutler

Primary Identifier  MGI:6199655 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Itgb2
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced G to A transition at base pair 77,561,216 (v38) on chromosome 10, or base pair 30,888 in the GenBank genomic region NC_000076 within the donor splice site of intron 14. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic site in intron 14, resulting in an 80-base pair insertion of intron 14. This predicts a frame shifted protein product beginning after amino acid 694 of the protein, which is normally 770 amino acids in length, and terminating after the inclusion of 9 aberrant amino acids.
  • mutations:
  • Single point mutation
  • synonyms:
  • nibbler,
  • nibbler
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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

3 Publication categories

Trail: Allele