MGI phenotypes (allele matching)
C3H/HeJ-Col4a1ENU6019/Ieg
| Status | Available to order |
| EMMA ID | EM:02239 |
| International strain name | C3H/HeJ-Col4a1ENU6019/Ieg |
| Alternative name | Col4a1 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Col4a1ENU6019 |
| Gene/Transgene symbol | Col4a1 |
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
MGI phenotypes (gene matching)
- decreased hematocrit / MGI
- delayed kidney development / MGI
- weakness / MGI
- myopathy / MGI
- dystrophic muscle / MGI
- abnormal cerebral cortex morphology / MGI
- delaminated cerebral cortex / MGI
- abnormal hippocampus morphology / MGI
- decreased body weight / MGI
- decreased body size / MGI
- microphthalmia / MGI
- abnormal lens morphology / MGI
- cataract / MGI
- abnormal cornea morphology / MGI
- corneal opacity / MGI
- irregularly shaped pupil / MGI
- abnormal iris morphology / MGI
- abnormal retina morphology / MGI
- anemia / MGI
- abnormal blood vessel morphology / MGI
- polyuria / MGI
- kidney inflammation / MGI
- intracranial hemorrhage / MGI
- intracerebral hemorrhage / MGI
- reduced fertility / MGI
- infertility / MGI
- respiratory distress / MGI
- seizures / MGI
- premature death / MGI
- abnormal eye morphology / MGI
- abnormal kidney morphology / MGI
- abnormal kidney physiology / MGI
- abnormal brain morphology / MGI
- abnormal retinal vasculature morphology / MGI
- abnormal renal glomerular capsule morphology / MGI
- albuminuria / MGI
- decreased hemoglobin content / MGI
- decreased erythrocyte cell number / MGI
- increased urine microalbumin level / MGI
- decreased urine osmolality / MGI
- abnormal lens capsule morphology / MGI
- astrocytosis / MGI
- vitreal fibroplasia / MGI
- nervous system phenotype / MGI
- abnormal Reichert's membrane morphology / MGI
- abnormal kidney papilla morphology / MGI
- abnormal basement membrane morphology / MGI
- abnormal kidney collecting duct morphology / MGI
- abnormal proximal convoluted tubule morphology / MGI
- dilated kidney collecting duct / MGI
- hematuria / MGI
- abnormal renal glomerulus morphology / MGI
- abnormal podocyte morphology / MGI
- corneal vascularization / MGI
- increased blood urea nitrogen level / MGI
- brainstem hemorrhage / MGI
- abnormal retinal neuronal layer morphology / MGI
- eye hemorrhage / MGI
- optic nerve hypoplasia / MGI
- abnormal retinal ganglion cell morphology / MGI
- abnormal podocyte foot process morphology / MGI
- abnormal podocyte slit diaphragm morphology / MGI
- podocyte foot process effacement / MGI
- abnormal brain pia mater morphology / MGI
- dilated proximal convoluted tubules / MGI
- buphthalmos / MGI
- bruising / MGI
- decreased grip strength / MGI
- increased circulating creatine kinase level / MGI
- abnormal retinal blood vessel pattern / MGI
- abnormal retina inner limiting membrane morphology / MGI
- anterior subcapsular cataracts / MGI
- anterior polar cataracts / MGI
- sutural cataracts / MGI
- total cataracts / MGI
- postnatal lethality, incomplete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- abnormal parietal endoderm morphology / MGI
- abnormal glomerular mesangium morphology / MGI
- abnormal renal glomerulus basement membrane morphology / MGI
- enlarged brain ventricles / MGI
- renal cast / MGI
- erythrocyturia / MGI
- anterior iris synechia / MGI
- abnormal glomerular capsule parietal layer morphology / MGI
- increased glomerular capsule space / MGI
- parietal capsular epithelium metaplasia / MGI
- dilated glomerular capillary / MGI
- renal glomerulus cysts / MGI
- vacuolated lens / MGI
- abnormal kidney collecting duct epithelium morphology / MGI
- abnormal urine albumin level / MGI
- decreased collagen level / 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