MGI phenotypes (allele matching)
B6;129P2-Gjb2tm1Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:00229 |
| Citation information | RRID:IMSR_EM:00229 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 | B6;129P2-Gjb2tm1Kwi/Cnrm |
| Alternative name | Cx26 KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Gjb2tm1Kwi |
| Gene/Transgene symbol | Gjb2 |
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 connexin 26 (Gjb2) was homologously replaced by the pgk promoter-derived selection marker gene (neomycin resistance). |
| Phenotypic information | Lethality around 9.5 dpc caused by glucose transport defect through the placenta. |
| 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 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
- Porokeratotic eccrine ostial and dermal duct nevus / Orphanet_166286
- Palmoplantar keratoderma-deafness syndrome / Orphanet_2202
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome / Orphanet_2698
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Keratoderma hereditarium mutilans / Orphanet_494
- KID syndrome / Orphanet_477
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
MGI phenotypes (gene matching)
- absent mandible / MGI
- decreased embryo size / MGI
- abnormal placenta development / MGI
- abnormal lymphatic vessel morphology / MGI
- no abnormal phenotype detected / MGI
- no phenotypic analysis / MGI
- lymphedema / MGI
- embryonic growth retardation / MGI
- decreased fetal size / MGI
- fetal growth retardation / MGI
- abnormal placental transport / MGI
- cardiovascular system phenotype / MGI
- abnormal mesenchyme morphology / MGI
- abnormal placental labyrinth vasculature morphology / MGI
- absent lymphatic vessels / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- decreased placental labyrinth size / MGI
Literature references
- Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice.;Gabriel H D, Jung D, Bützler C, Temme A, Traub O, Winterhager E, Willecke K, ;1998;The Journal of cell biology;140;1453-61; 9508777