Soat1<ald> Spontaneous Allele Detail MGI Mouse (MGI:1856648)

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

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

Phenotypes:

Affected Systems	hm1	hm2
show or hide all annotated terms
endocrine/exocrine glands		√
abnormal adrenal cortex morphology		√
abnormal adrenocortical cell morphology		√
thymus hyperplasia		√
hematopoietic system		√
thymus hyperplasia		√
immune system		√
thymus hyperplasia		√
integument	√
abnormal hair growth	√
abnormal hair shaft morphology	√
abnormal hair medulla	√
neoplasm		√
increased leukemia incidence		√

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

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)

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