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Allele : Gys2<m2Btlr> glycogen synthase 2; mutation 2, Bruce Beutler

Primary Identifier  MGI:6200360 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Gys2
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced T to A transversion at base pair 142,454,484 (v38) on chromosome 6, or base pair 18,647 in the GenBank genomic region NC_000072 encoding Gys2. The mutation corresponds to residue 1,308 in the mRNA sequence NM_145572 within exon 7 of 17 total exons. The mutation results in a phenylalanine (F) to isoleucine (I) substitution at residue 334 (F334I) in the GYS2 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • embittered,
  • embittered
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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