Sco1^{tm1c(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Sco1^{tm1c(KOMP)Wtsi}
• Name: SCO1 cytochrome c oxidase assembly protein; targeted mutation 1c, Wellcome Trust Sanger Institute
• MGI ID: MGI:5758867
• Synonyms: Sco1^loxP
• Gene: Sco1 Location: Chr11:66943496-66957896 bp, + strand Genetic Position: Chr11, 40.59 cM
• Alliance: Sco1^{tm1c(KOMP)Wtsi} page
• IMPC: Sco1 gene page

Mutation origin

• Mutant Cell Line: EPD0125_1_E10
• Germline Transmission: Earliest citation of germline transmission: J:222036
• Parent Cell Line: JM8.N4 (ES Cell)
• Strain of Origin: C57BL/6N
• Project Collection: KOMP-CSD

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutation: Insertion Vector: L1L2_Bact_P
• Mutation details: The L1L2_Bact_P cassette was inserted at position 66943973 of Chromosome 11 upstream of the critical exon 2 (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon 2 at position 66945133. The critical exon 2 is thus flanked by loxP sites. A "conditional ready" (floxed) allele was created by flp recombinase expression in mice carrying this allele. Subsequent cre expression results in a knockout mouse. (J:222036)

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:

	Allelic Composition	Genetic Background	Cell Line(s)
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cn1  Disease Model	Sco1^tm1c(KOMP)Wtsi/Sco1^tm1c(KOMP)Wtsi Speer6-ps1^Tg(Alb-cre)21Mgn/Speer6-ps1^+	involves: C57BL/6 * C57BL/6N * DBA

Phenotypes:

Affected Systems	cn1
show or hide all annotated terms
cellular	√
increased mitochondrial number	√
abnormal mitochondrial physiology	√
growth/size/body	√
decreased body size	√
weight loss	√
hematopoietic system	√
hematopoietic system phenotype	N
decreased leukocyte cell number	√
increased spleen iron level	√
spleen atrophy	√
decreased spleen white pulp amount	√
homeostasis/metabolism	√
increased spleen iron level	√
decreased kidney copper level	√
decreased liver copper level	√
increased liver iron level	√
increased liver cholesterol level	√
increased liver triglyceride level	√
immune system	√
decreased leukocyte cell number	√
increased spleen iron level	√
spleen atrophy	√
decreased spleen white pulp amount	√
liver/biliary system	√
abnormal liver morphology	√
decreased liver copper level	√
increased liver iron level	√
increased liver cholesterol level	√
increased liver triglyceride level	√
hepatic steatosis	√
mortality/aging	√
premature death	√
renal/urinary system	√
decreased kidney copper level	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cn1
cytochrome-c oxidase deficiency disease IDs cytochrome-c oxidase deficiency disease       DOID:3762 MESH:D030401 NCI:C98910 OMIM:PS220110 UMLS_CUI:C0268237 Close	√

Expression

In Mice Carrying this Mutation:	94 assay results 1 RNA-Seq or microarray experiment(s)
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: 0 strains available Cell Lines: 0 lines available
• Carrying any Sco1 Mutation: 19 strains or lines available

References

• Original: J:222036 Hlynialuk CJ, et al., The Mitochondrial Metallochaperone SCO1 Is Required to Sustain Expression of the High-Affinity Copper Transporter CTR1 and Preserve Copper Homeostasis. Cell Rep. 2015 Feb 12
• All: 3 reference(s)