IMPC phenotypes (gene matching)
C3.D2(Cg)-Col4a2ENU4020/Ieg
| Status | Available to order |
| EMMA ID | EM:02233 |
| International strain name | C3.D2(Cg)-Col4a2ENU4020/Ieg |
| Alternative name | Col4a2 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Col4a2ENU4020 |
| Gene/Transgene symbol | Col4a2 |
Information from provider
| Provider | Jack Favor |
| Provider affiliation | Institute of Human Genetics, Helmholtz Zentrum Muenchen |
| Genetic information | Heterozygous mutants express cataract. Homozygous mutants are lethal. Disclaimer - Special restrictions: 1) Mutant development was phenotype driven. Although for some mutant lines, linkage data and the molecular characterization of the causative mutation has been published, EMMA has not genotyped the strains and can not provide genotyping protocols. 2) Some lines showed low penetrance of the phenotype. 3) Only sperm available. Rederivation service can not be offered. 4) EMMA quality control standards may not apply for these strains. 5) EMMA has not verified the breeding performance and the genetic background of the strains. The genotype/phenotype of the mice is not confirmed by INFRAFRONTIER/EMMA. We strongly recommend that the recipient confirms genotype/phenotype upon receipt. |
| Phenotypic information | Eye - cataract. Brain - porencephaly. Blood vessels - hemorrhage. |
| Breeding history | Backcrossed to C3H/HeJ more than 20 generations. |
| References |
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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
- Familial porencephaly / Orphanet_99810
MGI phenotypes (allele matching)
- decreased hematocrit / MGI
- abnormal brain morphology / MGI
- decreased hemoglobin content / MGI
- decreased erythrocyte cell number / MGI
- abnormal lens epithelium morphology / MGI
- anterior polar cataracts / MGI
- total cataracts / MGI
- corneal-lenticular stalk / MGI
- vacuolated lens / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
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
- Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles.;Favor Jack, Gloeckner Christian Johannes, Janik Dirk, Klempt Martina, Neuhäuser-Klaus Angelika, Pretsch Walter, Schmahl Wolfgang, Quintanilla-Fend Leticia, ;2007;Genetics;175;725-36; 17179069