MGI phenotypes (allele matching)
- decreased body weight / MGI
C57BL/6N-Atm1Brd Cc2d2atm1a(EUCOMM)Wtsi/WtsiIeg
| Status | Available to order |
| EMMA ID | EM:05701 |
| Citation information | RRID:IMSR_EM:05701 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/6N-Atm1Brd Cc2d2atm1a(EUCOMM)Wtsi/WtsiIeg |
| Alternative name | EPD0381_1_A04 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Cc2d2atm1a(EUCOMM)Wtsi |
| Gene/Transgene symbol | Cc2d2a |
| 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 | Wellcome Trust Sanger Institute |
| Provider affiliation | Wellcome Trust Sanger Institute |
| Genetic information | This mouse line originates from EUCOMM ES clone EPD0381_1_A04. 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 | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Joubert syndrome with hepatic defect / Orphanet_1454
- Joubert syndrome with oculorenal defect / Orphanet_2318
- Meckel syndrome / Orphanet_564
MGI phenotypes (gene matching)
- cleft palate / MGI
- double outlet right ventricle / MGI
- polydactyly / MGI
- dextrocardia / MGI
- exencephaly / MGI
- incomplete rostral neuropore closure / MGI
- decreased body weight / MGI
- anophthalmia / MGI
- microphthalmia / MGI
- abnormal retina morphology / MGI
- abnormal embryo development / MGI
- decreased embryo size / MGI
- abnormal left-right axis patterning / MGI
- postnatal growth retardation / MGI
- hydroencephaly / MGI
- hemorrhage / MGI
- abnormal neural tube morphology / MGI
- abnormal tracheal ciliated epithelium morphology / MGI
- persistent truncus arteriosis / MGI
- situs inversus / MGI
- kidney cysts / MGI
- abnormal photoreceptor outer segment morphology / MGI
- abnormal photoreceptor inner segment morphology / MGI
- abnormal retinal outer nuclear layer morphology / MGI
- duplex kidney / MGI
- abnormal primitive node morphology / MGI
- heterotaxia / MGI
- abnormal cochlear hair cell stereociliary bundle morphology / MGI
- holoprosencephaly / MGI
- lethargy / MGI
- abnormal rostral-caudal axis patterning / MGI
- cellular phenotype / MGI
- abnormal eye electrophysiology / MGI
- tricuspid valve atresia / MGI
- pulmonary valve atresia / MGI
- polycystic kidney / MGI
- abnormal vesicle-mediated transport / MGI
- preaxial polydactyly / MGI
- focal dorsal hair loss / MGI
- ventricular septal defect / MGI
- common atrium / MGI
- atrioventricular septal defect / MGI
- complete atrioventricular septal defect / MGI
- muscular ventricular septal defect / MGI
- prenatal growth retardation / MGI
- decreased respiratory motile cilia number / MGI
- abnormal kinocilium morphology / MGI
- abnormal renal tubule epithelial cell primary cilium morphology / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- superior-inferior ventricles / MGI
- biventricular, discordant atrioventricular connection / MGI
- double outlet right ventricle with atrioventricular septal defect / MGI
- decreased embryonic cilium number / MGI
- abnormal primary cilium morphology / MGI
- abnormal nonmotile primary cilium morphology / MGI
- decreased embryonic neuroepithelium primary cilium number / MGI