- 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
B6.129P2-Gja1tm2(Gjb1)Kwi/Cnrm
Status | Available to order |
EMMA ID | EM:00328 |
International strain name | B6.129P2-Gja1tm2(Gjb1)Kwi/Cnrm |
Alternative name | Cx43-KI-Cx32 |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Gja1tm2(Gjb1)Kwi, |
Gene/Transgene symbol | Gja1 |
Information from provider
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 |
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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
- 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
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