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Allele : Soat1<ald> sterol O-acyltransferase 1; adrenocortical lipid depletion

Primary Identifier  MGI:1856648 Allele Type  Spontaneous
Gene  Soat1 Inheritance Mode  Recessive
Strain of Origin  AKR/O Is Recombinase  false
Is Wild Type  false
description  All AKR sublines are homozygous for Soat1.
molecularNote  Deletion of 118 bp in the a Soat1 mRNA. This region corresondes to the 5'UTR and the initial coding sequences. In addition, two missense mutations were observed: A1248G resulting in Ile to Val at amino acid 147 and C1422T resulting in His to Tyr at amino acid 205. Other nucleotide differences were observed that did not result in amino acid changes. A truncated protein is expressed from this allele, presumably due to internal initiation.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • hid,
  • Acact-,
  • Soat1<hid>,
  • hid,
  • Soat1<hid>,
  • ald,
  • Acact-,
  • ald
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

4 Carried By

0 Driven By

19 Publication categories