- 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
C57BL/6NTac-Cisd2tm1b(EUCOMM)Wtsi/H
| Status | Available to order |
| EMMA ID | EM:16801 |
| Citation information | RRID:IMSR_EM:16801 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6NTac-Cisd2tm1b(EUCOMM)Wtsi/H |
| Alternative name | C57BL/6NTac-Cisd2 |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Cisd2tm1b(EUCOMM)Wtsi |
| Gene/Transgene symbol | Cisd2 |
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This mouse line originates from ESC clone EPD0143_2_C03. The critical exon(s) were flanked by loxP sites, and subsequent cre expression excised this critical sequence resulting in a knockout reporter allele . For further details on the construction of this clone see the page at the IMPC portal |
| Phenotypic information | Homozygous:These mice are part of the International Mouse Phenotyping Consortium (IMPC) and will be phenotyped through a standardised phenotyping pipeline. Details of the pipeline and data, when available, can be viewed at www.mousephenotype.orgHeterozygous:These mice are part of the International Mouse Phenotyping Consortium (IMPC) and will be phenotyped through a standardised phenotyping pipeline. Details of the pipeline and data, when available, can be viewed at www.mousephenotype.org |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Wolfram syndrome / Orphanet_3463
IMPC phenotypes (gene matching)
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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