Allele/Variant

GhSma1

Species
Mus musculus
Symbol
GhSma1
Category
allele
Allele of gene
Gh
Transgenic Constructs
None
Synonyms
  • Sma1
Description
A transition point mutation that alters nucleotide 3144 in exon 5 from an A to a G was found following ENU mutagenesis. This translates into an aspartic acid to glycine amino acid change at position 167 in the C-terminal helix of the mature protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations