Comt^tm1Kara
Targeted Allele Detail

Summary

• Symbol: Comt^tm1Kara
• Name: catechol-O-methyltransferase; targeted mutation 1, Maria Karayiorgou
• MGI ID: MGI:2178542
• Synonyms: COMT^-, COMT-ko
• Gene: Comt Location: Chr16:18225636-18245602 bp, - strand Genetic Position: Chr16, 11.4 cM
• Alliance: Comt^tm1Kara page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:49475
• Parent Cell Line: AK7 (ES Cell)
• Strain of Origin: 129S4/SvJaeSor

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced a genomic fragment containing exons 2-4. Northern blot analysis on RNA derived from brain and liver of homozygous mice demonstrated that no detectable transcript was produced from this allele. Activity assays confirmed that no functional protein was expressed in homozygotes. (J:49475)

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	Comt^tm1Kara/Comt^tm1Kara	B6.129S4-Comt^tm1Kara
hm2  Disease Model	Comt^tm1Kara/Comt^tm1Kara	involves: 129S4/SvJaeSor
ht3	Comt^tm1Kara/Comt^+	involves: 129S4/SvJaeSor

Phenotypes:

Affected Systems	hm1	hm2		ht3
show or hide all annotated terms Sex:
behavior/neurological		√	√	√
increased aggression towards male mice				√
increased anxiety-related response		√	√
cardiovascular system		√	√
abnormal placenta vasculature		√	√
hypertension		√	√
embryo		√	√
abnormal placenta morphology		√	√
abnormal placenta vasculature		√	√
abnormal maternal decidual layer morphology		√
increased uterine NK cell number		√
abnormal spongiotrophoblast layer morphology		√	√
endocrine/exocrine glands		√
increased uterine NK cell number		√
hematopoietic system		√
increased uterine NK cell number		√
homeostasis/metabolism	√	√	√
abnormal homeostasis		√	√
abnormal blood homeostasis		√	√
increased dopamine level	√	√	√
hypoxia		√	√
albuminuria		√	√
abnormal xenobiotic pharmacokinetics	√
immune system		√	√
increased uterine NK cell number		√
increased interferon-gamma secretion		√	√
renal/urinary system		√	√
albuminuria		√	√
abnormal renal glomerulus morphology		√	√
reproductive system		√	√
abnormal maternal decidual layer morphology		√
increased uterine NK cell number		√
short gestation period		√
abnormal pregnancy		√
abnormal fertility/fecundity		√	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm2
cognitive disorder IDs cognitive disorder       DOID:1561 ICD10CM:F09 MESH:D019965 NCI:C34870 UMLS_CUI:C0029227 Close	√
pre-eclampsia IDs pre-eclampsia       DOID:10591 DOID:12684 ICD10CM:O14 MESH:D011225 NCI:C85021 OMIM:189800 OMIM:609402 OMIM:609403 OMIM:609404 OMIM:614592 ORDO:275555 UMLS_CUI:C0032914 Close	√

Expression

In Structures Affected by this Mutation:

8 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 Comt Mutation: 24 strains or lines available

References

• Original: J:49475 Gogos JA, et al., Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):9991-6
• All: 42 reference(s)