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Gja3tm1.1Vmb
Targeted Allele Detail
Nomenclature
Symbol: Gja3tm1.1Vmb
Name: gap junction protein, alpha 3; targeted mutation 1.1, Viviana M Berthoud
MGI ID: MGI:5762597
Synonyms: Cx46fs380
Gene: Gja3  Location: Chr14:57034460-57058030 bp, - strand  Genetic Position: Chr14, 29.82 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:227244
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Not Specified)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe sequence encoding the first 365 amino acids was followed by an in-frame insertion of the DNA sequence coding for the aberrant amino acid sequence in human Cx46fs380. The final allele lacks the self-excising neomycin resistance cassette inserted upstream of the mouse coding sequence. (J:227244)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Gja3 Mutation:  12 strains or lines available
References
Original:  J:227244 Berthoud VM, et al., Connexin46fs380 causes progressive cataracts. Invest Ophthalmol Vis Sci. 2014 Oct;55(10):6639-48
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory