- integument phenotype / MGI
- postnatal lethality, incomplete penetrance / MGI
- abnormal heart shape / MGI
- abnormal ovarian follicle morphology / MGI
- absent mature ovarian follicles / MGI
- absent corpus luteum / MGI
- abnormal skin condition / MGI
- abnormal epidermis stratum granulosum morphology / MGI
- abnormal epidermis stratum corneum morphology / MGI
- female infertility / MGI
- small heart / MGI
- dilated heart left ventricle / MGI
- impaired skin barrier function / MGI
- prolonged QT interval / MGI
- impaired luteinization / MGI
- decreased heart rate / MGI
B6;129P2-Gja1tm4Kwi/Cnrm
Status | Available to order |
EMMA ID | EM:01643 |
International strain name | B6;129P2-Gja1tm4Kwi/Cnrm |
Alternative name | Cx43KICx43K258stop |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Gja1tm4Kwi, |
Gene/Transgene symbol | Gja1 |
Information from provider
Provider | Klaus WILLECKE |
Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
Genetic information | Instead of the whole open reading frame of exon 2 of the Gja1 (Cx43) gene , a truncated form of Gja1 (leading to a deletion of the last 125 aminoacids) is expressed, under the control of the endogenous Gja1 promoter. |
Phenotypic information | Defects in the barrier function of the epidermis, dilatation of the heart, impaired folliculogenesis. |
Breeding history | After blastocyst injection the chimeras were bred with C57BL/6NCrl to obtain brown coat coloured offspring. This brown offspring was backcrossed to C57BL/6NCrl more than 2 times. |
References |
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Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Breeding at archiving centre | Backcrossed to C57BL/6J |
Disease and phenotype information
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)
Literature references
- Defective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43.;Maass Karen, Ghanem Alexander, Kim Jung-Sun, Saathoff Manuela, Urschel Stephanie, Kirfel Gregor, Grümmer Ruth, Kretz Markus, Lewalter Thorsten, Tiemann Klaus, Winterhager Elke, Herzog Volker, Willecke Klaus, ;2004;Molecular biology of the cell;15;4597-608; 15282340
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