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Allele : Galc<m3Btlr> galactosylceramidase; mutation 3, Bruce Beutler

Primary Identifier  MGI:6304952 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
description  https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3341
molecularNote  ENU-induced A to G transition at base pair 98,242,714 (v38) on chromosome 12, or base pair 16,750 in the GenBank genomic region NC_000078 encoding Galc. The mutation corresponds to residue 810 in the NM_008079 mRNA sequence in exon 7 of 17 total exons. The mutation results in an aspartic acid to glycine substitution at position 227 (D227G) in the GALC protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • quake,
  • quake
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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