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Gja8L1
Chemically induced Allele Detail
Summary
Symbol: Gja8L1
Name: gap junction protein, alpha 8; lens mutation 1
MGI ID: MGI:3774321
Synonyms: alpha8S50P, Cx50S50P
Gene: Gja8  Location: Chr3:96820882-96833336 bp, - strand  
Alliance: Gja8L1 page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Altered localization)
Mutation:    Single point mutation
 
Mutation detailsThe L1 mutation was discovered in a cataract screen of G1 progeny of ENU-treated male mice and mapped to Chromosome 3. It corresponds to a T-to-C transition at nt position 148 (counting as nt 1 the A of the initiation codon; the substitution is at nt 219 of Genbank Accession NM_008123), in the second of two total exons the first of which encodes the majority of the 5' untranslated region. The mutation replaces a highly-conserved hydrophilic serine at amino acid position 50, in the first extracellular loop (E1 domain) of the protein, with a hydrophobic proline (S50P). The mutant protein is expressed in the embryonic and adult eye lens. (J:108522)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
Find Mice (IMSR)
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 Gja8 Mutation:  33 strains or lines available
References
Original:  J:108522 Xia CH, et al., Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis. Development. 2006 May;133(10):2033-40
All:  4 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
10/22/2024
MGI 6.24
The Jackson Laboratory