IMPC phenotypes (gene matching)
STOCK Invsinv/H
| Status | Available to order |
| EMMA ID | EM:02515 |
| International strain name | STOCK Invsinv/H |
| Alternative name | INV |
| Strain type | Transgenic Strains |
| Allele/Transgene symbol | Invsinv |
| Gene/Transgene symbol | Invs |
Information from provider
| Provider | Elizabeth Robertson |
| Provider affiliation | Sir William Dunn School of Pathology, University of Oxford |
| Additional owner | For further information contact Martin Fray, FESA Manager. m.fray@har.mrc.ac.uk |
| Genetic information | The inv mutation was caused by a transgene insertion mutagenic event that resulted in a small duplication and a 47-kb deletion. This deletion eliminated exons 3-11, causing a frameshift in the remaining coding segment. |
| Phenotypic information | The mutation is maintained on an albino background and heterozygous carriers identified by their slightly pigmented coat colour due to low level expression of tyrosinase activity. Homozygous embryos survive gestation but die at birth due to defects in cardiac development associated with situs inversus. |
| Breeding history | Outcrossed to CD1. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Infantile nephronophthisis / Orphanet_93591
- Senior-Loken syndrome / Orphanet_3156
MGI phenotypes (allele matching)
- abnormal liver morphology / MGI
- abnormal heart morphology / MGI
- double outlet right ventricle / MGI
- abnormal atrioventricular cushion morphology / MGI
- abnormal intestine morphology / MGI
- left-sided isomerism / MGI
- dextrocardia / MGI
- abnormal spleen morphology / MGI
- spleen hypoplasia / MGI
- abnormal pancreas morphology / MGI
- situs inversus / MGI
- situs ambiguus / MGI
- left pulmonary isomerism / MGI
- transposition of great arteries / MGI
- abnormal vena cava morphology / MGI
- aortic valve stenosis / MGI
- left atrial isomerism / MGI
- atrial situs inversus / MGI
- right-sided stomach / MGI
- lung situs inversus / MGI
- abdominal situs ambiguus / MGI
- kidney cortex cysts / MGI
- jaundice / MGI
- decreased body weight / MGI
- decreased body size / MGI
- postnatal lethality / MGI
- abnormal kidney morphology / MGI
- dilated renal tubules / MGI
- nephrocalcinosis / MGI
- kidney failure / MGI
- kidney cysts / MGI
- increased kidney weight / MGI
- abnormal primitive node morphology / MGI
- abnormal direction of embryo turning / MGI
- abnormal kidney pelvis morphology / MGI
- abnormal direction of heart looping / MGI
- dilated kidney collecting duct / MGI
- abnormal biliary tract morphology / MGI
- abnormal pancreatic islet morphology / MGI
- abnormal renal glomerulus morphology / MGI
- renal/urinary system phenotype / MGI
- respiratory system phenotype / MGI
- pancreatic islet hyperplasia / MGI
- increased blood urea nitrogen level / MGI
- slow postnatal weight gain / MGI
- abnormal motile primary cilium physiology / MGI
- dilated proximal convoluted tubules / MGI
- dilated pancreatic duct / MGI
- abnormal pancreatic acinus morphology / MGI
- abnormal pancreatic acinar cell morphology / MGI
- decreased pancreatic acinar cell number / MGI
- disorganized pancreatic islets / MGI
- kidney medulla cysts / MGI
- kidney corticomedullary cysts / MGI
- abnormal loop of Henle descending limb morphology / MGI
- abnormal loop of Henle ascending limb thick segment morphology / MGI
- proximal convoluted tubule brush border loss / MGI
- abnormal kidney interstitium morphology / MGI
- increased glomerular capsule space / MGI
- renal glomerulus cysts / MGI
- abnormal embryonic cilium location or orientation / MGI
- right pulmonary isomerism / MGI
- right aortic arch / MGI
- double aortic arch / MGI
- aorta hypoplasia / MGI
MGI phenotypes (gene matching)
- abnormal heart morphology / MGI
- double outlet right ventricle / MGI
- abnormal atrioventricular cushion morphology / MGI
- abnormal intestine morphology / MGI
- kidney cortex cysts / MGI
- right pulmonary isomerism / MGI
- left-sided isomerism / MGI
- abnormal liver morphology / MGI
- jaundice / MGI
- dextrocardia / MGI
- abnormal spleen morphology / MGI
- spleen hypoplasia / MGI
- decreased body weight / MGI
- decreased body size / MGI
- abnormal pancreas morphology / MGI
- postnatal lethality / MGI
- abnormal kidney morphology / MGI
- dilated renal tubules / MGI
- situs inversus / MGI
- situs ambiguus / MGI
- left pulmonary isomerism / MGI
- nephrocalcinosis / MGI
- kidney failure / MGI
- kidney cysts / MGI
- increased kidney weight / MGI
- abnormal primitive node morphology / MGI
- transposition of great arteries / MGI
- right aortic arch / MGI
- double aortic arch / MGI
- abnormal direction of embryo turning / MGI
- abnormal kidney pelvis morphology / MGI
- abnormal direction of heart looping / MGI
- dilated kidney collecting duct / MGI
- abnormal biliary tract morphology / MGI
- abnormal pancreatic islet morphology / MGI
- abnormal renal glomerulus morphology / MGI
- renal/urinary system phenotype / MGI
- respiratory system phenotype / MGI
- pancreatic islet hyperplasia / MGI
- increased blood urea nitrogen level / MGI
- abnormal vena cava morphology / MGI
- aortic valve stenosis / MGI
- left atrial isomerism / MGI
- slow postnatal weight gain / MGI
- abnormal motile primary cilium physiology / MGI
- dilated proximal convoluted tubules / MGI
- dilated pancreatic duct / MGI
- abnormal pancreatic acinus morphology / MGI
- abnormal pancreatic acinar cell morphology / MGI
- decreased pancreatic acinar cell number / MGI
- disorganized pancreatic islets / MGI
- atrial situs inversus / MGI
- aorta hypoplasia / MGI
- right-sided stomach / MGI
- lung situs inversus / MGI
- abdominal situs ambiguus / MGI
- kidney medulla cysts / MGI
- kidney corticomedullary cysts / MGI
- abnormal loop of Henle descending limb morphology / MGI
- abnormal loop of Henle ascending limb thick segment morphology / MGI
- proximal convoluted tubule brush border loss / MGI
- abnormal kidney interstitium morphology / MGI
- increased glomerular capsule space / MGI
- renal glomerulus cysts / MGI
- abnormal embryonic cilium location or orientation / MGI
Literature references
- Reversal of left-right asymmetry: a situs inversus mutation.;Yokoyama T, Copeland N G, Jenkins N A, Montgomery C A, Elder F F, Overbeek P A, ;1993;Science (New York, N.Y.);260;679-82; 8480178