IMPC phenotypes (allele matching)
C57BL/6N-Col4a2em1(IMPC)Wtsi/WtsiOulu
| Status | Available to order |
| EMMA ID | EM:11598 |
| Citation information | RRID:IMSR_EM:11598 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-Col4a2em1(IMPC)Wtsi/WtsiOulu |
| Alternative name | |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Col4a2em1(IMPC)Wtsi |
| Gene/Transgene symbol | Col4a2 |
Information from provider
| Provider | Wellcome Trust Sanger Institute |
| Provider affiliation | Wellcome Trust Sanger Institute |
| Genetic information | This mouse line originates from CRISPR zygote microinjection. For further details see the project page at the IMPC portal. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References |
|
Information from EMMA
| Archiving centre | University of Oulu, Oulu, Finland |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Familial porencephaly / Orphanet_99810
MGI phenotypes (gene matching)
- abnormal rib morphology / MGI
- decreased hematocrit / MGI
- abnormal interatrial septum morphology / MGI
- double outlet right ventricle / MGI
- abnormal atrioventricular cushion morphology / MGI
- abnormal autopod morphology / MGI
- abnormal thyroid gland morphology / MGI
- small thymus / MGI
- abnormal forebrain morphology / MGI
- abnormal hindbrain morphology / MGI
- abnormal oculomotor nerve morphology / MGI
- abnormal trigeminal ganglion morphology / MGI
- abnormal testis morphology / MGI
- microphthalmia / MGI
- abnormal lens morphology / MGI
- cataract / MGI
- hemorrhage / MGI
- abnormal tail morphology / MGI
- abnormal brain morphology / MGI
- abnormal outer ear morphology / MGI
- decreased hemoglobin content / MGI
- decreased erythrocyte cell number / MGI
- small thyroid gland / MGI
- aphakia / MGI
- abnormal lens epithelium morphology / MGI
- abnormal eye muscle morphology / MGI
- retroesophageal right subclavian artery / MGI
- abnormal optic stalk morphology / MGI
- abnormal optic cup morphology / MGI
- fusion of vertebral arches / MGI
- abnormal eye anterior chamber morphology / MGI
- coloboma / MGI
- abnormal inferior vena cava morphology / MGI
- arteriovenous malformation / MGI
- abnormal cervical rib / MGI
- thoracoschisis / MGI
- buphthalmos / MGI
- abnormal left lung morphology / MGI
- abnormal right lung morphology / MGI
- anterior polar cataracts / MGI
- total cataracts / MGI
- muscular ventricular septal defect / MGI
- abnormal hepatic vein morphology / MGI
- aorta stenosis / MGI
- bicuspid aortic valve / MGI
- corneal-lenticular stalk / MGI
- postnatal lethality, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- vacuolated lens / MGI
- increased cornea thickness / MGI
- abnormal thyroid gland isthmus morphology / MGI
- absent thyroid gland isthmus / MGI
- subcutaneous edema / MGI
- abnormal ventral pancreas morphology / MGI
- trigeminal neuroma / MGI
- absent ductus venosus valve / MGI
- abnormal ductus venosus valve morphology / MGI
- absent costovertebral joint / MGI
- abnormal thymus topology / MGI
- blood in lymph vessels / MGI
- abnormal vertebral artery topology / MGI
- additional anastomosis between intracranial vertebral arteries / MGI
- abnormal cranial blood vasculature morphology / MGI
- embryo tumor / MGI
- embryo cyst / MGI
- heterochrony / MGI
- abnormal intestine placement / MGI
- retrolental blood / MGI
Literature references
- The Col4a2em1(IMPC)Wtsi mouse line: lessons from the Deciphering the Mechanisms of Developmental Disorders program.;Reissig Lukas F, Herdina Anna Nele, Rose Julia, Maurer-Gesek Barbara, Lane Jenna L, Prin Fabrice, Wilson Robert, Hardman Emily, Galli Antonella, Tudor Catherine, Tuck Elizabeth, Icoresi-Mazzeo Cecilia, White Jacqueline K, Ryder Ed, Gleeson Diane, Adams David J, Geyer Stefan H, Mohun Timothy J, Weninger Wolfgang J, ;2019;Biology open;8;; 31331924