C3H.C-Pkd2^lrm4/H

Status	Available to order
EMMA ID	EM:15942
Citation information	RRID:IMSR_EM:15942 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C3H.C-Pkd2^lrm4/H
Alternative name	C3H.C-Pkd2/H
Strain type	Induced Mutant Strains
Allele/Transgene symbol	Pkd2^lrm4
Gene/Transgene symbol	Pkd2

Information from provider

Provider	MRC, Medical Research Council
Provider affiliation	Mary Lyon Centre at MRC Harwell
Genetic information	The original mutant was the offspring of a BALB/cAnn male that received ENU mated to a C3H/HeH female. The mutation comprises an A-to-G transition at nucleotide position 12 of exon 6, resulting in non-conservative replacement of glutamine by glycine at amino acid position 442 (E442G), a highly-conserved position within the ion channel of the protein. Causes in utero death when homozygous. Material stored here is from strain maintained by crossing to C3H/HeH for more than 10 generations.
Phenotypic information	Developmental arrest and death associated with homozygosity.
Breeding history	Original mutant was the offspring of a BALB/cAnn male that received ENU mated to a C3H/HeH female. Congenic on C3H/HeH
References	Mouse mutagenesis identifies novel roles for left-right patterning genes in pulmonary, craniofacial, ocular, and limb development.;Ermakov Alexander, Stevens Jonathan L, Whitehill Elaine, Robson Joan E, Pieles Guido, Brooker Debra, Goggolidou Paraskevi, Powles-Glover Nicola, Hacker Terry, Young Stephen R, Dear Neil, Hirst Elizabeth, Tymowska-Lalanne Zuzanna, Briscoe James, Bhattacharya Shoumo, Norris Dominic P, ;2009;Developmental dynamics : an official publication of the American Association of Anatomists;238;581-94; 19235720
Homozygous fertile	not known
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

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal dominant polycystic kidney disease / Orphanet_730

MGI phenotypes (gene matching)

abnormal heart development / MGI
abnormal heart looping / MGI
kidney cortex cysts / MGI
right pulmonary isomerism / MGI
abnormal liver development / MGI
abnormal liver morphology / MGI
enlarged liver / MGI
dextrocardia / MGI
mesocardia / MGI
absent spleen / MGI
abnormal lung development / MGI
distended abdomen / MGI
abnormal left-right axis patterning / MGI
postnatal growth retardation / MGI
edema / MGI
hemorrhage / MGI
abnormal pancreas morphology / MGI
premature death / MGI
abnormal kidney morphology / MGI
no abnormal phenotype detected / MGI
hydrops fetalis / MGI
dilated renal tubules / MGI
situs inversus / MGI
situs ambiguus / MGI
increased liver weight / MGI
enlarged kidney / MGI
left pulmonary isomerism / MGI
dilated bile duct / MGI
bile duct proliferation / MGI
liver cysts / MGI
liver fibrosis / MGI
pancreas cysts / MGI
kidney failure / MGI
kidney cysts / MGI
increased kidney weight / MGI
polyhydramnios / MGI
abnormal primitive node morphology / MGI
abnormal direction of embryo turning / MGI
pericardial effusion / MGI
embryo phenotype / MGI
increased blood urea nitrogen level / MGI
polycystic kidney / MGI
abnormal placental labyrinth vasculature morphology / MGI
dilated proximal convoluted tubules / MGI
dilated pancreatic duct / MGI
ventricular septal defect / MGI
atrial septal defect / MGI
atrioventricular septal defect / MGI
abnormal hepatic vein morphology / MGI
mortality/aging / MGI
abnormal stomach position or orientation / MGI
right-sided stomach / MGI
postnatal lethality, incomplete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
lethality throughout fetal growth and development, complete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
kidney medulla cysts / MGI
abnormal papillary duct morphology / MGI
increased kidney apoptosis / MGI
increased kidney cell proliferation / MGI
increased glomerular capsule space / MGI
abnormal amniotic fluid composition / MGI
abnormal cholangiocyte morphology / MGI
increased cholangiocyte apoptosis / MGI
abnormal cholangiocyte primary cilium morphology / MGI

Literature references

Mouse mutagenesis identifies novel roles for left-right patterning genes in pulmonary, craniofacial, ocular, and limb development.;Ermakov Alexander, Stevens Jonathan L, Whitehill Elaine, Robson Joan E, Pieles Guido, Brooker Debra, Goggolidou Paraskevi, Powles-Glover Nicola, Hacker Terry, Young Stephen R, Dear Neil, Hirst Elizabeth, Tymowska-Lalanne Zuzanna, Briscoe James, Bhattacharya Shoumo, Norris Dominic P, ;2009;Developmental dynamics : an official publication of the American Association of Anatomists;238;581-94; 19235720

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C3H.C-Pkd2lrm4/H