strain-details - INFRAFRONTIER

Information from provider

Status	Available to order
EMMA ID	EM:00328
International strain name	B6.129P2-Gja1^tm2(Gjb1)Kwi/Cnrm
Alternative name	Cx43-KI-Cx32
Strain type	Targeted Mutant Strains : Knock-in
Allele/Transgene symbol	Gja1^tm2(Gjb1)Kwi
Gene/Transgene symbol	Gja1

Provider	Klaus WILLECKE
Provider affiliation	Molekulargenetik, Institut fuer Genetik, Universitaet Bonn
Genetic information	Exon 2, including the whole open reading frame of Cx43 (Gja1), is homologously replaced by the coding region of Cx32 (Gjb1); no selection marker gene is maintained in the genome.
Phenotypic information	Heterozygous females have lactation difficulties.
Breeding history	After blastocyst injection the chimeras were bred with C57BL/6NCrl to obtain brown coat colored offspring. This brown offspring was backcrossed to C57BL/6NCrl more than three times.
References	Unique and shared functions of different connexins in mice.;Plum A, Hallas G, Magin T, Dombrowski F, Hagendorff A, Schumacher B, Wolpert C, Kim J, Lamers W H, Evert M, Meda P, Traub O, Willecke K, ;2000;Current biology : CB;10;1083-91; 10996788

Disease and phenotype information

Archiving centre	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy
Breeding at archiving centre	Backcrossed to C57BL/6J

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal dominant palmoplantar keratoderma and congenital alopecia / Orphanet_1010
Oculodentodigital dysplasia / Orphanet_2710
Craniometaphyseal dysplasia / Orphanet_1522
Syndactyly type 3 / Orphanet_93404
Erythrokeratodermia variabilis / Orphanet_317

MGI phenotypes (allele matching)

maternal effect / MGI
abnormal milk ejection / MGI
abnormal mammary gland alveolus morphology / MGI
ventricular premature beat / MGI
abnormal mammary gland luminal epithelium morphology / MGI
thin ventricular wall / MGI
abnormal ovarian follicle morphology / MGI
decreased body weight / MGI
cataract / MGI
irregular heartbeat / MGI
reduced female fertility / MGI
male infertility / MGI
abnormal seminiferous tubule morphology / MGI
oligozoospermia / MGI
decreased ovulation rate / MGI
abnormal heart right ventricle morphology / MGI
abnormal trabecula carnea morphology / MGI
decreased testis weight / MGI
abnormal heart ventricle morphology / MGI
ventricular tachycardia / MGI
postnatal lethality, incomplete penetrance / MGI

MGI phenotypes (gene matching)

delayed bone ossification / MGI
decreased bone mineral density / MGI
abnormal neurocranium morphology / MGI
abnormal parietal bone morphology / MGI
abnormal tooth development / MGI
brittle teeth / MGI
abnormal rib morphology / MGI
abnormal heart morphology / MGI
abnormal heart development / MGI
abnormal heart shape / MGI
thin ventricular wall / MGI
abnormal interventricular septum morphology / MGI
decreased bone marrow cell number / MGI
abnormal cranium morphology / MGI
pointed snout / MGI
syndactyly / MGI
abnormal ovary morphology / MGI
small ovary / MGI
impaired ovarian folliculogenesis / MGI
abnormal ovarian follicle morphology / MGI
absent mature ovarian follicles / MGI
absent corpus luteum / MGI
small testis / MGI
abnormal spermatogenesis / MGI
abnormal skin condition / MGI
abnormal epidermis stratum granulosum morphology / MGI
abnormal epidermis stratum corneum morphology / MGI
decreased body weight / MGI
decreased body size / MGI
cataract / MGI
corneal opacity / MGI
irregularly shaped pupil / MGI
abnormal iris morphology / MGI
abnormal suckling behavior / MGI
abnormal cardiovascular system physiology / MGI
cyanosis / MGI
cardiac hypertrophy / MGI
abnormal heart rate / MGI
irregular heartbeat / MGI
postnatal growth retardation / MGI
edema / MGI
heart inflammation / MGI
abnormal lactation / MGI
reduced female fertility / MGI
male infertility / MGI
female infertility / MGI
decreased litter size / MGI
abnormal breathing pattern / MGI
ovary cysts / MGI
perinatal lethality / MGI
premature death / MGI
abnormal tooth morphology / MGI
abnormal digit morphology / MGI
abnormal craniofacial bone morphology / MGI
no abnormal phenotype detected / MGI
small heart / MGI
decreased germ cell number / MGI
abnormal seminiferous tubule morphology / MGI
abnormal pulmonary gas exchange / MGI
abnormal bone marrow cell morphology/development / MGI
abnormal proerythroblast morphology / MGI
abnormal neutrophil physiology / MGI
reduced enamel thickness / MGI
decreased mature ovarian follicle number / MGI
oligozoospermia / MGI
abnormal semilunar valve morphology / MGI
abnormal pulmonary valve morphology / MGI
dilated heart left ventricle / MGI
impaired skin barrier function / MGI
abnormal cardiac muscle contractility / MGI
no phenotypic analysis / MGI
short zygomatic bone / MGI
abnormal impulse conducting system conduction / MGI
cardiac fibrosis / MGI
prolonged QT interval / MGI
abnormal alisphenoid bone morphology / MGI
decreased ovulation rate / MGI
impaired luteinization / MGI
delayed endochondral bone ossification / MGI
delayed intramembranous bone ossification / MGI
maternal effect / MGI
abnormal milk ejection / MGI
abnormal nervous system development / MGI
prolonged PR interval / MGI
shortened QT interval / MGI
abnormal heart right ventricle morphology / MGI
thin myocardium compact layer / MGI
abnormal trabecula carnea morphology / MGI
prolonged P wave / MGI
abnormal coronary artery morphology / MGI
abnormal atrioventricular bundle conduction / MGI
abnormal myocardial fiber physiology / MGI
patent cardiac foramen ovale / MGI
small frontal bone / MGI
interparietal bone hypoplasia / MGI
abnormal zygomatic arch morphology / MGI
small nasal bone / MGI
small maxilla / MGI
small mandible / MGI
abnormal thoracic cage morphology / MGI
decreased testis weight / MGI
abnormal vascular wound healing / MGI
decreased male germ cell number / MGI
decreased bone strength / MGI
abnormal osteoblast physiology / MGI
decreased cardiac muscle contractility / MGI
azoospermia / MGI
abnormal occipital bone morphology / MGI
abnormal heart ventricle morphology / MGI
abnormal phalanx morphology / MGI
abnormal myocardium layer morphology / MGI
decreased heart rate / MGI
small cranium / MGI
abnormal incisor morphology / MGI
hearing/vestibular/ear phenotype / MGI
embryo phenotype / MGI
cardiovascular system phenotype / MGI
behavior/neurological phenotype / MGI
vision/eye phenotype / MGI
abnormal vascular smooth muscle physiology / MGI
decreased ventricle muscle contractility / MGI
decreased tympanic ring size / MGI
semilunar valve regurgitation / MGI
abnormal cardiac outflow tract development / MGI
abnormal mammary gland growth during pregnancy / MGI
abnormal spermatocyte morphology / MGI
abnormal osteoblast differentiation / MGI
abnormal granulosa cell morphology / MGI
ventricular tachycardia / MGI
abnormal mammary gland alveolus morphology / MGI
abnormal superovulation / MGI
ventricular premature beat / MGI
decreased bone mineral content / MGI
prolonged QRS complex duration / MGI
decreased QRS amplitude / MGI
abnormal heart right ventricle outflow tract morphology / MGI
heart right ventricle outflow tract stenosis / MGI
abnormal coronary vein morphology / MGI
coronary fistula / MGI
coronary artery aneurysm / MGI
abnormal heart electrocardiography waveform feature / MGI
abnormal coronary vessel morphology / MGI
thick aortic valve / MGI
thick pulmonary valve / MGI
integument phenotype / MGI
postnatal lethality, complete penetrance / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
perinatal lethality, incomplete penetrance / MGI
preweaning lethality, complete penetrance / MGI
prenatal lethality, incomplete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
preweaning lethality, incomplete penetrance / MGI
abnormal mammary gland luminal epithelium morphology / MGI
small lower incisors / MGI
small snout / MGI
thin parietal bone / MGI
small neurocranium / MGI

Literature references

Unique and shared functions of different connexins in mice.;Plum A, Hallas G, Magin T, Dombrowski F, Hagendorff A, Schumacher B, Wolpert C, Kim J, Lamers W H, Evert M, Meda P, Traub O, Willecke K, ;2000;Current biology : CB;10;1083-91; 10996788
Effects of substitution of Cx43 by Cx32 on myocardial energy metabolism, tolerance to ischaemia and preconditioning protection.;Rodríguez-Sinovas Antonio, Sánchez Jose A, González-Loyola Alejandra, Barba Ignasi, Morente Miriam, Aguilar Rio, Agulló Esperanza, Miró-Casas Elisatet, Esquerda Neus, Ruiz-Meana Marisol, García-Dorado David, ;2010;The Journal of physiology;588;1139-51; 20156849

Information on how we integrate external resources can be found here

Availabilities

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

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*

Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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).

B6.129P2-Gja1^tm2(Gjb1)Kwi/Cnrm

Information from provider

Information from EMMA

Disease and phenotype information

Literature references

Information on how we integrate external resources can be found here

Availabilities

Practical information

Other EMMA strains

B6.129P2-Gja1tm2(Gjb1)Kwi/Cnrm

Information from provider

Information from EMMA

Disease and phenotype information

Literature references

Information on how we integrate external resources can be found here

Availabilities

Practical information

Other EMMA strains

B6.129P2-Gja1^tm2(Gjb1)Kwi/Cnrm