- 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 |
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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