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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
AKR/O
Spontaneous
Insertion, Nucleotide substitutions
Recessive
1
--
14

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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