Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

Symbol:	Gjb1tm1Kwi
Name:	gap junction protein, beta 1; targeted mutation 1, Klaus Willecke
MGI ID:	MGI:1857927
Synonyms:	Cx32-
Gene:	Gjb1  Location: ChrX:100419984-100429235 bp, + strand  Genetic Position: ChrX, 44.06 cM, cytoband D-F4
Alliance:	Gjb1tm1Kwi page

Germline Transmission:	Earliest citation of germline transmission: J:36146
Parent Cell Line:	J1 (ES Cell)
Strain of Origin:	129S4/SvJae

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: A neomycin resistance cassette was inserted into exon 2 of the gene, resulting in a stop codon 90 nucleotides after the translational start and a new start codon 15 base pairs further downstream. Northern blots of total liver RNA from homozygous mutant mice showed no detectable transcript for the gene. (J:36146)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

List all tumor models in MMHCdb carrying Gjb1tm1Kwi

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Gjb1 Mutation:	27 strains or lines available

Original:	J:36146 Nelles E, et al., Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice. Proc Natl Acad Sci U S A. 1996 Sep 3;93(18):9565-70
All:	80 reference(s)