- abnormal embryo size / IMPC
- syndactyly / IMPC
- abnormal skin coloration / IMPC
- embryonic growth retardation / IMPC
- abnormal skin appearance / IMPC
- microcephaly / IMPC
- pallor / IMPC
- pale liver / IMPC
- preweaning lethality, complete penetrance / IMPC
- increased mean corpuscular volume / IMPC
- abnormal auditory brainstem response / IMPC
B6.129P2(Cg)-Gjb3tm2.2Kwi/Cnrm
Status | Available to order |
EMMA ID | EM:02384 |
Citation information | RRID:IMSR_EM:02384 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(Cg)-Gjb3tm2.2Kwi/Cnrm |
Alternative name | Cx31floxdNCx31F137L |
Strain type | Targeted Mutant Strains : Conditional mutation |
Allele/Transgene symbol | Gjb3tm2.2Kwi |
Gene/Transgene symbol | Gjb3 |
Information from provider
Provider | Klaus WILLECKE |
Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
Genetic information | After cre recombinase-mediated deletion of the Cx31 (Gjb3) coding region, the point mutation Cx31-F137L is expressed under the control of the endogenous Cx31 promoter. One frt site between the two loxP sites is remaining in the genome, upon deletion of the frt sites-flanked neomycin-selection cassette. |
Phenotypic information | Not in the loxP flanked state. After ubiquitous expression of Cx31-F137L, heterozygous mice have skin abnormalities and homozygous mice are not viable. |
Breeding history | After blastocyst injection the chimeras were bred with C57BL/6NCrl to obtain brown offspring. This brown offspring was backcrossed once with flp recombinase deleter mice (nearly 100% C57BL/6NCrl) to delete the selection cassette and after that more than three times with C57BL/6NCrl. |
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 recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Neuropathy with hearing impairment / Orphanet_139512
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
- Erythrokeratodermia variabilis / Orphanet_317
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- thick epidermis / MGI
- epidermal hyperplasia / MGI
- abnormal placenta morphology / MGI
- abnormal allantois morphology / MGI
- enhanced wound healing / MGI
- no phenotypic analysis / MGI
- small placenta / MGI
- abnormal chorionic plate morphology / MGI
- mortality/aging / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- decreased placental labyrinth size / MGI
- abnormal placenta intervillous maternal lacunae morphology / MGI
- decreased spongiotrophoblast size / MGI
Literature references
- The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV).;Schnichels Marc, Wörsdörfer Philipp, Dobrowolski Radoslaw, Markopoulos Christian, Kretz Markus, Schwarz Gabriele, Winterhager Elke, Willecke Klaus, ;2007;Human molecular genetics;16;1216-24; 17446259
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