RGD Reference Report - Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation.

Authors: Plum, A  Winterhager, E  Pesch, J  Lautermann, J  Hallas, G  Rosentreter, B  Traub, O  Herberhold, C  Willecke, K 
Citation: Plum A, etal., Dev Biol. 2001 Mar 15;231(2):334-47.
RGD ID: 12436730
Pubmed: (View Article at PubMed) PMID:11237463
DOI: Full-text: DOI:10.1006/dbio.2000.0148

Mutations in the human GJB3 gene that codes for Connexin31 (Cx31), a protein subunit of gap junction channels, have recently been reported to cause deafness and the skin disorder erythrokeratodermia variabilis. To study the function of this gene in mice, we generated animals with targeted replacement of the Cx31 gene (Gjb3) by a lacZ reporter gene. Although homozygous Cx31-deficient adult mice (Gjb3(-/-)) were found among the offspring of heterozygous Cx31-deficient parents (Gjb3(+/-)), 60% of the animals expected according to Mendelian inheritance were lost between ED 10.5 and 13.5. Placentas of Gjb3(-/-) embryos at ED 9.5 were smaller than controls as a result of severely reduced labyrinth and spongiotrophoblast size. From ED 10.5 onward, placentas of surviving Gjb3(-/-) embryos recovered progressively and reached normal size and morphology by ED 18.5. This corresponds to a time period in which another connexin isoform, Connexin43, is upregulated in spongiotrophoblast cells of Cx31-deficient and control placentas. No morphological or functional defects of skin or inner ear were observed in surviving adult Gjb3(-/-) mice. We conclude that Cx31 is essential for early placentation but can be compensated for by other connexins in the embryo proper and adult mouse.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Gjb3  (gap junction protein, beta 3)

Genes (Mus musculus)
Gjb3  (gap junction protein, beta 3)

Genes (Homo sapiens)
GJB3  (gap junction protein beta 3)


Additional Information