Allele/Variant

Galcm2Btlr

Species
Mus musculus
Symbol
Galcm2Btlr
Category
allele
Allele of gene
Galc
Transgenic Constructs
None
Synonyms
  • teeter
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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