C57BL/6N-A^tm1Brd Rpgrip1l^{tm1a(EUCOMM)Wtsi}/WtsiBiat

Status	Available to order
EMMA ID	EM:05968
International strain name	C57BL/6N-A^tm1Brd Rpgrip1l^{tm1a(EUCOMM)Wtsi}/WtsiBiat
Alternative name	EPD0373_5_A04
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Rpgrip1l^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Rpgrip1l
Disclaimer	Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA: We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider	Wellcome Trust Sanger Institute
Provider affiliation	Wellcome Trust Sanger Institute
Genetic information	This mouse line originates from EUCOMM ES clone EPD0373_5_A04. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	None available

Information from EMMA

Archiving centre	University of Veterinary Medicine, Vienna, Austria

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Joubert syndrome with hepatic defect / Orphanet_1454
Meckel syndrome / Orphanet_564
Joubert syndrome with renal defect / Orphanet_220497

IMPC phenotypes (allele matching)

preweaning lethality, complete penetrance / IMPC
hyperplasia / IMPC

IMPC phenotypes (gene matching)

hyperplasia / IMPC
preweaning lethality, complete penetrance / IMPC

MGI phenotypes (allele matching)

abnormal inner ear morphology / MGI
abnormal basioccipital bone morphology / MGI
abnormal basisphenoid bone morphology / MGI
cleft palate / MGI
abnormal vertebral body morphology / MGI
abnormal rib morphology / MGI
double outlet right ventricle / MGI
abnormal atrioventricular cushion morphology / MGI
abnormal maxilla morphology / MGI
polydactyly / MGI
enlarged liver sinusoidal spaces / MGI
abnormal pineal gland morphology / MGI
absent spleen / MGI
spleen hypoplasia / MGI
abnormal forebrain morphology / MGI
abnormal olfactory bulb morphology / MGI
abnormal hindbrain morphology / MGI
abnormal midbrain morphology / MGI
small dorsal root ganglion / MGI
absent superior cervical ganglion / MGI
small superior cervical ganglion / MGI
absent oculomotor nerve / MGI
abnormal accessory nerve morphology / MGI
abnormal testis morphology / MGI
anophthalmia / MGI
abnormal nasal cavity morphology / MGI
abnormal nasal septum morphology / MGI
abnormal hyoid bone morphology / MGI
left pulmonary isomerism / MGI
liver cysts / MGI
absent olfactory bulb / MGI
bifid ureter / MGI
abnormal eye muscle morphology / MGI
abnormal palate morphology / MGI
liver hemorrhage / MGI
transposition of great arteries / MGI
heterotaxia / MGI
right aortic arch / MGI
abnormal carotid artery morphology / MGI
abnormal optic stalk morphology / MGI
abnormal optic cup morphology / MGI
abnormal vertebral arch morphology / MGI
fusion of vertebral arches / MGI
absent vertebral body / MGI
abnormal brain vasculature morphology / MGI
holoprosencephaly / MGI
cleft upper lip / MGI
abnormal incisor morphology / MGI
abnormal heart position or orientation / MGI
absent brain internal capsule / MGI
absent adenohypophysis / MGI
left atrial isomerism / MGI
thoracoschisis / MGI
absent sublingual gland / MGI
abnormal right lung morphology / MGI
absent optic chiasm / MGI
decreased tongue size / MGI
atrial septal defect / MGI
common atrium / MGI
perimembraneous ventricular septal defect / MGI
muscular ventricular septal defect / MGI
double outlet left ventricle / MGI
atrial situs inversus / MGI
anomalous pulmonary venous connection / MGI
abnormal inferior vena cava valve morphology / MGI
persistent right dorsal aorta / MGI
abdominal situs ambiguus / MGI
abnormal internal carotid artery morphology / MGI
abnormal basilar artery morphology / MGI
thin facial nerve / MGI
abnormal intrathoracic topology of vagus nerve / MGI
thin hypoglossal nerve / MGI
absent hypoglossal nerve / MGI
abnormal hypoglossal nerve topology / MGI
absent segment of posterior cerebral artery / MGI
subcutaneous edema / MGI
abnormal Mullerian duct topology / MGI
abnormal hepatic portal vein formation / MGI
abnormal azygos vein topology / MGI
abnormal vitelline vein connection / MGI
abnormal pancreas topology / MGI
abnormal ventral pancreas morphology / MGI
absent ductus venosus valve / MGI
abnormal ductus venosus valve topology / MGI
absent intracranial segment of vertebral artery / MGI
persistent right 6th pharyngeal arch artery / MGI
thin motoric part of trigeminal nerve / MGI
retro-esophageal left subclavian artery / MGI
absent connection between subcutaneous lymph vessels and lymph sac / MGI
abnormal coronary sinus connection / MGI
symmetric azygos veins / MGI
abnormal subclavian artery origin / MGI
inverse situs of great intrathoracic arteries / MGI
abnormal umbilical vein topology / MGI
absent intrahepatic inferior vena cava segment / MGI
abnormal vertebral artery origin / MGI
abnormal internal carotid artery topology / MGI
absent canalicular internal carotid artery segment / MGI
absent parasellar internal carotid artery / MGI
anastomosis between internal carotid artery and basilar artery / MGI
abnormal cranial blood vasculature morphology / MGI
heterochrony / MGI
abnormal intestine placement / MGI

MGI phenotypes (gene matching)

abnormal inner ear morphology / MGI
abnormal basioccipital bone morphology / MGI
abnormal basisphenoid bone morphology / MGI
cleft palate / MGI
abnormal vertebral body morphology / MGI
abnormal rib morphology / MGI
double outlet right ventricle / MGI
enlarged pericardium / MGI
abnormal atrioventricular cushion morphology / MGI
abnormal cranium morphology / MGI
abnormal maxilla morphology / MGI
abnormal mandible morphology / MGI
mandible hypoplasia / MGI
polydactyly / MGI
enlarged liver sinusoidal spaces / MGI
abnormal pineal gland morphology / MGI
dextrocardia / MGI
absent spleen / MGI
spleen hypoplasia / MGI
decreased corpus callosum size / MGI
abnormal forebrain morphology / MGI
abnormal olfactory bulb morphology / MGI
abnormal hindbrain morphology / MGI
cerebellum hypoplasia / MGI
abnormal midbrain morphology / MGI
exencephaly / MGI
absent floor plate / MGI
small dorsal root ganglion / MGI
absent superior cervical ganglion / MGI
small superior cervical ganglion / MGI
absent oculomotor nerve / MGI
abnormal accessory nerve morphology / MGI
abnormal testis morphology / MGI
anophthalmia / MGI
microphthalmia / MGI
abnormal left-right axis patterning / MGI
abnormal neural tube morphology / MGI
absent corpus callosum / MGI
abnormal nasal cavity morphology / MGI
abnormal nasal septum morphology / MGI
small olfactory bulb / MGI
abnormal bile duct development / MGI
abnormal hyoid bone morphology / MGI
left pulmonary isomerism / MGI
liver cysts / MGI
liver fibrosis / MGI
absent olfactory bulb / MGI
bifid ureter / MGI
abnormal eye muscle morphology / MGI
abnormal palate morphology / MGI
liver hemorrhage / MGI
transposition of great arteries / MGI
heterotaxia / MGI
right aortic arch / MGI
abnormal carotid artery morphology / MGI
abnormal optic stalk morphology / MGI
abnormal optic cup morphology / MGI
broad limb buds / MGI
abnormal vertebral arch morphology / MGI
fusion of vertebral arches / MGI
absent vertebral body / MGI
abnormal proximal convoluted tubule morphology / MGI
abnormal brain vasculature morphology / MGI
holoprosencephaly / MGI
cleft upper lip / MGI
abnormal viscerocranium morphology / MGI
abnormal incisor morphology / MGI
abnormal limb bud morphology / MGI
abnormal heart position or orientation / MGI
absent brain internal capsule / MGI
absent adenohypophysis / MGI
left atrial isomerism / MGI
thoracoschisis / MGI
absent sublingual gland / MGI
abnormal right lung morphology / MGI
preaxial polydactyly / MGI
absent optic chiasm / MGI
decreased tongue size / MGI
atrial septal defect / MGI
common atrium / MGI
perimembraneous ventricular septal defect / MGI
muscular ventricular septal defect / MGI
double outlet left ventricle / MGI
atrial situs inversus / MGI
anomalous pulmonary venous connection / MGI
abnormal inferior vena cava valve morphology / MGI
persistent right dorsal aorta / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
abdominal situs ambiguus / MGI
absent Rathke's pouch / MGI
dilated brain ventricles / MGI
abnormal internal carotid artery morphology / MGI
abnormal basilar artery morphology / MGI
small Rathke's pouch / MGI
thin facial nerve / MGI
abnormal intrathoracic topology of vagus nerve / MGI
thin hypoglossal nerve / MGI
absent hypoglossal nerve / MGI
abnormal hypoglossal nerve topology / MGI
absent segment of posterior cerebral artery / MGI
subcutaneous edema / MGI
abnormal Mullerian duct topology / MGI
abnormal hepatic portal vein formation / MGI
abnormal azygos vein topology / MGI
abnormal vitelline vein connection / MGI
abnormal pancreas topology / MGI
abnormal ventral pancreas morphology / MGI
absent ductus venosus valve / MGI
abnormal ductus venosus valve topology / MGI
absent intracranial segment of vertebral artery / MGI
persistent right 6th pharyngeal arch artery / MGI
thin motoric part of trigeminal nerve / MGI
retro-esophageal left subclavian artery / MGI
absent connection between subcutaneous lymph vessels and lymph sac / MGI
abnormal coronary sinus connection / MGI
symmetric azygos veins / MGI
abnormal subclavian artery origin / MGI
inverse situs of great intrathoracic arteries / MGI
abnormal umbilical vein topology / MGI
absent intrahepatic inferior vena cava segment / MGI
abnormal vertebral artery origin / MGI
abnormal internal carotid artery topology / MGI
absent canalicular internal carotid artery segment / MGI
absent parasellar internal carotid artery / MGI
anastomosis between internal carotid artery and basilar artery / MGI
abnormal cranial blood vasculature morphology / MGI
heterochrony / MGI
abnormal intestine placement / MGI
abnormal inferior vena cava topology / MGI

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
LacZ tagged null allele (tm1b allele), service fee and delivery time available upon request
Conditional ready allele (tm1c allele), service fee and delivery time available upon request
Reporterless null allele (tm1d allele), service fee and delivery time available upon request

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

Other EMMA strains

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C57BL/6N-Atm1Brd Rpgrip1ltm1a(EUCOMM)Wtsi/WtsiBiat