Oma1^tm1Otin
Targeted Allele Detail

Summary

• Symbol: Oma1^tm1Otin
• Name: OMA1 zinc metallopeptidase; targeted mutation 1, Carlos Lopez-Otin
• MGI ID: MGI:5426689
• Synonyms: Oma1^tm1Otin
• Gene: Oma1 Location: Chr4:103171009-103229065 bp, + strand Genetic Position: Chr4, 47.6 cM, cytoband C6
• Alliance: Oma1^tm1Otin page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:184716
• Parent Cell Line: G4 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NCrl)F1

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• A neo cassette replaced exon 2. (J:184716)

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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hm1	Oma1^tm1Otin/Oma1^tm1Otin	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr
cx2	Chchd10^em3Dpn/Chchd10^em3Dpn Oma1^tm1Otin/Oma1^tm1Otin	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCrl
cx3	Chchd10^em3Dpn/Chchd10^em3Dpn Oma1^tm1Otin/Oma1^+	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCrl

Phenotypes:

Affected Systems	hm1	cx2	cx3
show or hide all annotated terms
adipose tissue	√
abnormal fat cell mitochondrial morphology	√
increased white fat cell size	√
increased gonadal fat pad weight	√
abnormal mesenteric fat pad morphology	√
abnormal brown adipose tissue thermogenesis	√
cardiovascular system		√
enlarged heart		√
cellular	√	√	√
abnormal mitochondrial morphology	√		√
abnormal fat cell mitochondrial morphology	√
decreased mitochondrial DNA content	√
abnormal mitochondrial crista morphology		√	√
abnormal mitochondrial shape		√
abnormal muscle fiber mitochondrial morphology			√
increased mitochondrial size	√
dilated mitochondrion		√	√
abnormal cell physiology	√
decreased cellular sensitivity to alkylating agents	√
decreased fatty acid beta-oxidation	√
growth/size/body	√	√
enlarged heart		√
increased body weight	√
increased susceptibility to diet-induced obesity	√
decreased body size		√
decreased body weight		√
homeostasis/metabolism	√
decreased fatty acid beta-oxidation	√
increased susceptibility to diet-induced obesity	√
abnormal blood homeostasis	√
increased circulating leptin level	√
increased circulating triglyceride level	√
increased circulating alanine transaminase level	√
increased circulating aspartate transaminase level	√
decreased body temperature	√
abnormal circadian temperature homeostasis	√
abnormal gas homeostasis	√
decreased carbon dioxide production	√
decreased oxygen consumption	√
abnormal glucose homeostasis	√
decreased circulating insulin level	√
impaired glucose tolerance	√
increased insulin sensitivity	√
decreased basal metabolism	√
immune system	√
granulomatous inflammation	√
liver/biliary system	√
hepatic steatosis	√
mortality/aging		√
neonatal lethality, incomplete penetrance		√
postnatal lethality, incomplete penetrance		√
muscle			√
abnormal muscle fiber mitochondrial morphology			√

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

Expression

In Structures Affected by this Mutation:

6 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 Oma1 Mutation: 23 strains or lines available

References

• Original: J:184716 Quiros PM, et al., Loss of mitochondrial protease OMA1 alters processing of the GTPase OPA1 and causes obesity and defective thermogenesis in mice. EMBO J. 2012 May 2;31(9):2117-33
• All: 7 reference(s)