IMPC phenotypes (allele matching)
C57BL/6N-Col4a2em1(IMPC)Wtsi/WtsiOulu
| Status | Available to order |
| EMMA ID | EM:11598 |
| 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