Scd1<tm1Ntam> Targeted Allele Detail MGI Mouse (MGI:2388371)

Scd1^tm1Ntam
Targeted Allele Detail

Nomenclature

Symbol:	Scd1^tm1Ntam
Name:	stearoyl-Coenzyme A desaturase 1; targeted mutation 1, James M Ntambi
MGI ID:	MGI:2388371
Synonyms:	SCD1^-
Gene:	Scd1 Location: Chr19:44468945-44482043 bp, - strand Genetic Position: Chr19, 43.0 cM

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:71350
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Mutation
description

Allele Type:	Targeted (knock-out)
Mutations:	Insertion, Intragenic deletion
	The entire coding region of the gene (exons 1-6) was replaced with a neomycin resistance cassette via homologous recombination. Absence of gene expression in homozygous mutant animals was confirmed by Northern blot analysis of various tissue samples and by Western blot analysis of liver protein extracts. Enzyme activity was also undetectable in liver extracts from homozygous animals. (J:71350)

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 Scd1 Mutation:	10 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	hm2
adipose tissue		√	√
decreased white adipose tissue amount		√	√
		hm1	hm2
behavior/neurological		√	√
increased eating behavior			√
polyphagia		√
		hm1	hm2
endocrine/exocrine glands		√
meibomian gland atrophy		√
sebaceous gland atrophy		√
		hm1	hm2
growth/size			√
increased resistance to diet-induced obesity			√
		hm1	hm2
homeostasis/metabolism		√	√
increased circulating ketone body level		√
increased oxygen consumption		√
abnormal cholesterol homeostasis		√
decreased unsaturated fatty acid level		√
increased saturated fatty acid level		√
increased resistance to diet-induced obesity			√
abnormal glucose homeostasis			√
decreased circulating insulin level		√
improved glucose tolerance		√	√
decreased circulating glucose level			√
increased insulin sensitivity			√
decreased triglyceride level			√
decreased circulating triglyceride level			√
		hm1	hm2
liver/biliary system			√
increased resistance to hepatic steatosis			√
		hm1	hm2
skin/coat/nails		√
partial hair loss		√
		hm1	hm2
vision/eye		√
meibomian gland atrophy		√
narrow eye opening		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Scd1^tm1Ntam/Scd1^tm1Ntam	involves: 129S6/SvEvTac
adipose tissue decreased white adipose tissue amount (J:78607) especially reproductive and subcutaneous fat pads, both on high fat and normal chow diet behavior/neurological polyphagia (J:78607) consumed 25% more food than wild-type littermate controls endocrine/exocrine glands meibomian gland atrophy (J:71350) sebaceous gland atrophy (J:71350) homeostasis/metabolism decreased circulating insulin level (J:78607) in fasting state, compared to wild-type littermate controls increased circulating ketone body level (J:78607) increased oxygen consumption (J:78607) improved glucose tolerance (J:78607) vs. wild-type littermate controls abnormal cholesterol homeostasis (J:71350) decreased unsaturated fatty acid level (J:71350) noted in liver, white adipose tissue, skin, eyelid increased saturated fatty acid level (J:71350) noted in liver, white adipose tissue, skin, eyelid skin/coat/nails partial hair loss (J:71350) evident at 3-4 weeks, progressively severe with age vision/eye meibomian gland atrophy (J:71350) narrow eye opening (J:71350) evident at 3 - 4weeks, and progressively more severe with age
Genotype	Allelic Composition	Genetic Background
hm2	Scd1^tm1Ntam/Scd1^tm1Ntam	involves: C57BL/6
growth/size increased resistance to diet-induced obesity (J:130441) resistant to both high fat and high carbohydrate diet-induced obesity adipose tissue decreased white adipose tissue amount (J:130441) on a high fat or high carbohydrate diet WAT weights are 80% and 75% lower, respectively, compared to diet-matched wild-type mice homeostasis/metabolism increased resistance to diet-induced obesity (J:130441) resistant to both high fat and high carbohydrate diet-induced obesity abnormal glucose homeostasis (J:130441) decreased circulating glucose level (J:130441) reduced fasting plasma glucose level on a normal chow, high fat or high carbohydrate diet compared to diet-matched wild-type mice improved glucose tolerance (J:130441) enhanced tolerance is seen in mice on a normal chow, high fat or high carbohydrate diet compared to diet-matched wild-type mice increased insulin sensitivity (J:130441) enhanced sensitivity is seen in mice on a normal chow, high fat or high carbohydrate diet compared to diet-matched wild-type mice decreased triglyceride level (J:130441) decrease in palmitate and linoleate content in the liver of mice on a normal chow, high fat or high carbohydrate diet decreased circulating triglyceride level (J:130441) on a high fat or high carbohydrate diet, but not on a normal chow diet liver/biliary system increased resistance to hepatic steatosis (J:130441) protected from both high fat and high carbohydrate diet-induced fatty liver development behavior/neurological increased eating behavior (J:130441) increased in mice on a normal chow, high fat or high carbohydrate diet compared to diet-matched wild-type mice

References

Original:	J:71350 Miyazaki M et al., "Targeted disruption of stearoyl-CoA desaturase1 gene in mice causes atrophy of sebaceous and meibomian glands and depletion of wax esters in the eyelid." J Nutr 2001 Sep;131(9):2260-8
All:	21 reference(s)

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