Soat1^ald
Spontaneous Allele Detail

Summary

• Symbol: Soat1^ald
• Name: sterol O-acyltransferase 1; adrenocortical lipid depletion
• MGI ID: MGI:1856648
• Synonyms: Acact-, ald, hid, Soat1^hid
• Gene: Soat1 Location: Chr1:156255678-156301898 bp, - strand Genetic Position: Chr1, 67.71 cM
• Alliance: Soat1^ald page

Mutation origin

• Strain of Origin: AKR/O

Mutation description

• Allele Type: Spontaneous
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: 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. (J:42073, J:180857)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Soat1 Mutation: 42 strains or lines available

Notes

All AKR sublines are homozygous for Soat1.

References

• Original: J:12157 Arnesen K, The cytology of the adrenal cortex in mice with spontaneous adrenocortical lipid depletion. Acta Pathol Microbiol Scand. 1963;58:212-218
• All: 18 reference(s)