- 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
B6.129-Gjb3tm1Kwi/Cnrm
Status | Available to order |
EMMA ID | EM:00324 |
International strain name | B6.129-Gjb3tm1Kwi/Cnrm |
Alternative name | Cx31 KO (LacZ) |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Gjb3tm1Kwi |
Gene/Transgene symbol | Gjb3 |
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 Cx31 (Gjb3), is homologously replaced by the lacZ open reading frame and a MCI promotor-controlled neo selection marker gene, which is still in the genome. |
Phenotypic information | Transient placental dysmorphogenesis resulting in reduced offspring. |
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 |
|
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 (allele matching)
- abnormal placenta morphology / MGI
- abnormal allantois morphology / MGI
- small placenta / MGI
- abnormal chorionic plate morphology / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- decreased placental labyrinth size / MGI
- abnormal placenta intervillous maternal lacunae morphology / MGI
- decreased spongiotrophoblast size / MGI
- mortality/aging / MGI
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
- Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation.;Plum A, Winterhager E, Pesch J, Lautermann J, Hallas G, Rosentreter B, Traub O, Herberhold C, Willecke K, ;2001;Developmental biology;231;334-47; 11237463
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).