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Allele : Galc<m2Btlr> galactosylceramidase; mutation 2, Bruce Beutler

Primary Identifier  MGI:6268378 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Galc
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 98,259,162 (v38) on chromosome 12, or base pair 302 in the GenBank genomic region NC_000078 encoding Galc. The mutation corresponds to residue 298 in the NM_008079 mRNA sequence in exon 1 of 17 total exons. The mutation results in an aspartic acid to glutamic acid substitution at position 56 (D56E) in the GALC protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • teeter,
  • teeter
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories