B6;129P2-Gjb2tm1Kwi/Cnrm
Status | Available to order |
EMMA ID | EM:00229 |
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 (allele matching)
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
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