- decreased bone mineral density / IMPC
- decreased locomotor activity / IMPC
- increased circulating phosphate level / IMPC
- abnormal glucose homeostasis / IMPC
- decreased circulating triglyceride level / IMPC
- abnormal eye size / IMPC
- decreased heart weight / IMPC
- increased lean body mass / IMPC
- decreased lean body mass / IMPC
- abnormal behavior / IMPC
- increased circulating aspartate transaminase level / IMPC
- corneal vascularization / IMPC
- decreased circulating creatinine level / IMPC
- decreased circulating amylase level / IMPC
- increased total body fat amount / IMPC
- increased bone mineral content / IMPC
C57BL/6NTac-Cisd2tm1a(EUCOMM)Wtsi/H
Status | Available to order |
EMMA ID | EM:04395 |
International strain name | C57BL/6NTac-Cisd2tm1a(EUCOMM)Wtsi/H |
Alternative name | EPD0143_2_C03 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Cisd2tm1a(EUCOMM)Wtsi |
Gene/Transgene symbol | Cisd2 |
Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
Provider | MRC, Medical Research Council |
Provider affiliation | Mary Lyon Centre at MRC Harwell |
Genetic information | This mouse line originates from EUCOMM ES clone EPD0143_2_C03. For further details on the construction of this clone see the page at the IMPC portal. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Animals used for archiving | heterozygous C57BL/6NTac |
Breeding at archiving centre | Chimeras were mated to C57BL/6NTac (USA) and maintained on this background thereafter. |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Wolfram syndrome / Orphanet_3463
IMPC phenotypes (allele matching)
IMPC phenotypes (gene matching)
- abnormal eye size / IMPC
- abnormal behavior / IMPC
- decreased bone mineral density / IMPC
- decreased circulating triglyceride level / IMPC
- abnormal glucose homeostasis / IMPC
- increased circulating phosphate level / IMPC
- increased circulating aspartate transaminase level / IMPC
- decreased lean body mass / IMPC
- decreased heart weight / IMPC
- decreased circulating amylase level / IMPC
- increased lean body mass / IMPC
- increased total body fat amount / IMPC
- increased bone mineral content / IMPC
- decreased circulating creatinine level / IMPC
- decreased locomotor activity / IMPC
- corneal vascularization / IMPC
MGI phenotypes (gene matching)
- prominent ears / MGI
- decreased bone mineral density / MGI
- kyphosis / MGI
- lordosis / MGI
- decreased hair follicle number / MGI
- ruffled hair / MGI
- tremors / MGI
- weakness / MGI
- muscle degeneration / MGI
- abnormal skeletal muscle morphology / MGI
- demyelination / MGI
- thick epidermis / MGI
- decreased body weight / MGI
- decreased body size / MGI
- corneal opacity / MGI
- abnormal optic nerve morphology / MGI
- postnatal growth retardation / MGI
- blindness / MGI
- abnormal coat/hair pigmentation / MGI
- abnormal glucose homeostasis / MGI
- premature death / MGI
- neurodegeneration / MGI
- abnormal respiratory function / MGI
- exophthalmos / MGI
- impaired skeletal muscle contractility / MGI
- increased insulin sensitivity / MGI
- decreased insulin secretion / MGI
- abnormal skeletal muscle fiber morphology / MGI
- oliguria / MGI
- premature aging / MGI
- abnormal defecation / MGI
- abnormal muscle fiber morphology / MGI
- dilated sarcoplasmic reticulum / MGI
- abnormal sarcomere morphology / MGI
- abnormal calcium ion homeostasis / MGI
- small thoracic cavity / MGI
- lethargy / MGI
- decreased oxygen consumption / MGI
- impaired glucose tolerance / MGI
- abnormal myocardium layer morphology / MGI
- muscle phenotype / MGI
- axon degeneration / MGI
- decreased tidal volume / MGI
- abnormal mitochondrion morphology / MGI
- decreased body mass index / MGI
- abnormal autophagy / MGI
- decreased subcutaneous adipose tissue amount / MGI
- retinal neovascularization / MGI
- decreased trabecular bone thickness / MGI
- abnormal skeletal muscle fiber type ratio / MGI
- decreased total body fat amount / MGI
- abnormal respiratory electron transport chain / MGI
- increased mitochondria size / MGI
- abnormal mitochondrial shape / MGI
- abnormal mitochondrial crista morphology / MGI
- decreased food intake / MGI
- decreased fluid intake / MGI
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